#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
ATP5F1	515	genome.wustl.edu	37	1	112002198	112002198	+	Silent	SNP	A	A	G			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr1:112002198A>G	ENST00000369722.3	+	6	1239	c.633A>G	c.(631-633)gaA>gaG	p.E211E	ATP5F1_ENST00000369721.4_3'UTR|ATP5F1_ENST00000483994.1_Silent_p.E150E	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	211					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTCGAAAGGAACAAGAACACA	0.418																																						dbGAP											0													88.0	88.0	88.0					1																	112002198		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	840	protein-coding gene	gene with protein product		603270	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"""			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.633A>G	1.37:g.112002198A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQ68|Q9BRU8	Silent	SNP	pfam_ATPase_F0-cplx_bsu_mt	p.E211	ENST00000369722.3	37	c.633	CCDS836.1	1																																																																																			ATP5F1	-	pfam_ATPase_F0-cplx_bsu_mt	ENSG00000116459		0.418	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1	103	0.00	0	A	NM_001688		112002198	112002198	+1	no_errors	ENST00000369722	ensembl	human	known	69_37n	silent	70	18.60	16	SNP	1.000	G
CD300LG	146894	genome.wustl.edu	37	17	41931261	41931261	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr17:41931261T>C	ENST00000317310.4	+	4	609	c.568T>C	c.(568-570)Tac>Cac	p.Y190H	CD300LG_ENST00000377203.4_Missense_Mutation_p.Y156H|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000293396.8_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.Y190H	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	190					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GACTTCCCAGTACGGGCACGA	0.627																																						dbGAP											0													95.0	78.0	84.0					17																	41931261		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.568T>C	17.37:g.41931261T>C	ENSP00000321005:p.Tyr190His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.Y190H	ENST00000317310.4	37	c.568	CCDS11470.1	17	.	.	.	.	.	.	.	.	.	.	T	8.735	0.917482	0.17982	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203	T;T;T	0.06218	3.35;3.33;3.74	3.39	-2.96	0.05547	.	2.629100	0.01488	N	0.016940	T	0.05456	0.0144	L	0.29908	0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.38564	-0.9655	10	0.28530	T	0.3	.	6.3181	0.21202	0.0:0.5587:0.1962:0.2451	.	156;190;190	F8W9M3;F5H7P9;Q6UXG3	.;.;CLM9_HUMAN	H	190;190;156	ENSP00000321005:Y190H;ENSP00000442368:Y190H;ENSP00000366408:Y156H	ENSP00000321005:Y190H	Y	+	1	0	CD300LG	39286787	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.008000	0.03663	-0.664000	0.05324	0.459000	0.35465	TAC	CD300LG	-	NULL	ENSG00000161649		0.627	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD300LG	HGNC	protein_coding	OTTHUMT00000457646.1	69	0.00	0	T	NM_145273		41931261	41931261	+1	no_errors	ENST00000317310	ensembl	human	known	69_37n	missense	53	44.90	44	SNP	0.000	C
COL17A1	1308	genome.wustl.edu	37	10	105811267	105811267	+	Silent	SNP	G	G	A			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr10:105811267G>A	ENST00000353479.5	-	25	2300	c.2010C>T	c.(2008-2010)agC>agT	p.S670S	COL17A1_ENST00000369733.3_Silent_p.S670S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	670	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGGAGAGCCGCTGGAACCTG	0.562																																						dbGAP											0													39.0	41.0	40.0					10																	105811267		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2010C>T	10.37:g.105811267G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	pfam_Collagen	p.S670	ENST00000353479.5	37	c.2010	CCDS7554.1	10																																																																																			COL17A1	-	NULL	ENSG00000065618		0.562	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	83	0.00	0	G	NM_130778, NM_000494		105811267	105811267	-1	no_errors	ENST00000353479	ensembl	human	known	69_37n	silent	65	35.00	35	SNP	0.001	A
CROCCP2	84809	genome.wustl.edu	37	1	16950449	16950449	+	lincRNA	SNP	A	A	G	rs11260846	byFrequency	TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr1:16950449A>G	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCAGCTGCCATTGCACCTCA	0.667																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950449A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.667	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	28	0.00	0	A	NR_026752.1		16950449	16950449	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	39	20.41	10	SNP	0.983	G
EPHA1	2041	genome.wustl.edu	37	7	143095047	143095047	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr7:143095047G>C	ENST00000275815.3	-	8	1667	c.1581C>G	c.(1579-1581)ttC>ttG	p.F527L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	527	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GATCAGGGGAGAAAGGGCCAG	0.567																																						dbGAP											0													113.0	110.0	111.0					7																	143095047		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1581C>G	7.37:g.143095047G>C	ENSP00000275815:p.Phe527Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.F527L	ENST00000275815.3	37	c.1581	CCDS5884.1	7	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629357	0.67015	.	.	ENSG00000146904	ENST00000275815	T	0.53206	0.63	4.52	4.52	0.55395	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.108679	0.41712	D	0.000835	T	0.44180	0.1281	L	0.51914	1.62	0.37598	D	0.920435	P	0.38617	0.64	B	0.40602	0.334	T	0.55667	-0.8105	10	0.87932	D	0	.	10.5767	0.45231	0.0888:0.0:0.9112:0.0	.	527	P21709	EPHA1_HUMAN	L	527	ENSP00000275815:F527L	ENSP00000275815:F527L	F	-	3	2	EPHA1	142805169	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.219000	0.65262	2.493000	0.84123	0.655000	0.94253	TTC	EPHA1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146904		0.567	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1	145	0.00	0	G			143095047	143095047	-1	no_errors	ENST00000275815	ensembl	human	known	69_37n	missense	86	25.22	29	SNP	1.000	C
EXOC3	11336	genome.wustl.edu	37	5	457049	457049	+	Silent	SNP	C	C	G			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr5:457049C>G	ENST00000512944.1	+	5	1281	c.1092C>G	c.(1090-1092)gtC>gtG	p.V364V	EXOC3_ENST00000315013.5_Silent_p.V364V	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	375					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGTGGATGTCGGCACCCTGG	0.567																																						dbGAP											0													97.0	103.0	101.0					5																	457049		2122	4236	6358	-	-	-	SO:0001819	synonymous_variant	0			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1092C>G	5.37:g.457049C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	pfam_Sec6	p.S234W	ENST00000512944.1	37	c.701	CCDS54830.1	5																																																																																			EXOC3	-	pfam_Sec6	ENSG00000180104		0.567	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	99	0.00	0	C	NM_007277		457049	457049	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000503889	ensembl	human	known	69_37n	missense	87	30.40	38	SNP	0.000	G
INHBA	3624	genome.wustl.edu	37	7	41729851	41729851	+	Silent	SNP	G	G	A			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr7:41729851G>A	ENST00000242208.4	-	3	924	c.678C>T	c.(676-678)agC>agT	p.S226S	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Silent_p.S226S|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	226					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCGCTGGATGCTGCTGGAGA	0.577										TSP Lung(11;0.080)																												dbGAP											0													56.0	53.0	54.0					7																	41729851		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.678C>T	7.37:g.41729851G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14599	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.S226	ENST00000242208.4	37	c.678	CCDS5464.1	7																																																																																			INHBA	-	pfam_TGF-b_N	ENSG00000122641		0.577	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	98	0.00	0	G			41729851	41729851	-1	no_errors	ENST00000242208	ensembl	human	known	69_37n	silent	61	28.24	24	SNP	1.000	A
KRT27	342574	genome.wustl.edu	37	17	38933368	38933368	+	Silent	SNP	G	G	T			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr17:38933368G>T	ENST00000301656.3	-	8	1303	c.1263C>A	c.(1261-1263)gtC>gtA	p.V421V	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAACTGTTTTGACAATGGTGG	0.333																																						dbGAP											0													112.0	115.0	114.0					17																	38933368		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1263C>A	17.37:g.38933368G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.V421	ENST00000301656.3	37	c.1263	CCDS11375.1	17																																																																																			KRT27	-	NULL	ENSG00000171446		0.333	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	287	0.00	0	G	NM_181537		38933368	38933368	-1	no_errors	ENST00000301656	ensembl	human	known	69_37n	silent	128	41.01	89	SNP	0.981	T
MAP3K1	4214	genome.wustl.edu	37	5	56167804	56167805	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr5:56167804_56167805delAC	ENST00000399503.3	+	7	1369_1370	c.1369_1370delAC	c.(1369-1371)acafs	p.T457fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	457					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGAAAGTCTTACAGTGTGTGAA	0.426																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1369_1370delAC	5.37:g.56167804_56167805delAC	ENSP00000382423:p.Thr457fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.T457fs	ENST00000399503.3	37	c.1369_1370	CCDS43318.1	5																																																																																			MAP3K1	-	pfscan_Znf_RING	ENSG00000095015		0.426	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	180	0.00	0	AC	XM_042066		56167804	56167805	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_del	127	31.55	59	DEL	0.994:0.997	-
MAP3K1	4214	genome.wustl.edu	37	5	56189440	56189440	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr5:56189440T>A	ENST00000399503.3	+	20	4472	c.4472T>A	c.(4471-4473)cTt>cAt	p.L1491H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1491	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGTTTAGAACTTCAACCTCAG	0.453																																						dbGAP											0													127.0	120.0	122.0					5																	56189440		1963	4164	6127	-	-	-	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4472T>A	5.37:g.56189440T>A	ENSP00000382423:p.Leu1491His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.L1491H	ENST00000399503.3	37	c.4472	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	T	23.3	4.398547	0.83120	.	.	ENSG00000095015	ENST00000399503	T	0.26223	1.75	6.04	6.04	0.98038	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.46614	1.455	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	T	0.32851	-0.9891	10	0.66056	D	0.02	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	1491	Q13233	M3K1_HUMAN	H	1491	ENSP00000382423:L1491H	ENSP00000382423:L1491H	L	+	2	0	MAP3K1	56225197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.998000	0.76277	2.317000	0.78254	0.459000	0.35465	CTT	MAP3K1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000095015		0.453	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	168	0.00	0	T	XM_042066		56189440	56189440	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	123	23.60	38	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49445909	49445909	+	Frame_Shift_Del	DEL	G	G	-	rs371020316		TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr12:49445909delG	ENST00000301067.7	-	10	1556	c.1557delC	c.(1555-1557)cccfs	p.P519fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	519	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P519P(2)									GTGGAGACAAGGGCGACTCCT	0.607																																						dbGAP											2	Substitution - coding silent(2)	lung(2)											48.0	54.0	52.0					12																	49445909		2064	4198	6262	-	-	-	SO:0001589	frameshift_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1557delC	12.37:g.49445909delG	ENSP00000301067:p.Pro519fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L520fs	ENST00000301067.7	37	c.1557	CCDS44873.1	12																																																																																			MLL2	-	NULL	ENSG00000167548		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	214	0.00	0	G			49445909	49445909	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	frame_shift_del	128	29.79	56	DEL	0.999	-
KMT2C	58508	genome.wustl.edu	37	7	151856014	151856014	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr7:151856014delC	ENST00000262189.6	-	44	11822	c.11604delG	c.(11602-11604)aggfs	p.R3868fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.R3868fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3868					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGTCCTTTTTCCTTTTCTTTG	0.463																																						dbGAP											0													356.0	320.0	332.0					7																	151856014		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11604delG	7.37:g.151856014delC	ENSP00000262189:p.Arg3868fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K3870fs	ENST00000262189.6	37	c.11604	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	453	0.00	0	C			151856014	151856014	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	285	30.47	131	DEL	1.000	-
MYH11	4629	genome.wustl.edu	37	16	15831386	15831386	+	Silent	SNP	G	G	T	rs374947185		TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr16:15831386G>T	ENST00000300036.5	-	25	3322	c.3213C>A	c.(3211-3213)atC>atA	p.I1071I	MYH11_ENST00000452625.2_Silent_p.I1078I|MYH11_ENST00000396324.3_Silent_p.I1078I|MYH11_ENST00000576790.2_Silent_p.I1071I	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1071					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGAGGTCAGCGATCTGCTCGT	0.612			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													106.0	90.0	95.0					16																	15831386		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3213C>A	16.37:g.15831386G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1078	ENST00000300036.5	37	c.3234	CCDS10565.1	16																																																																																			MYH11	-	superfamily_Prefoldin	ENSG00000133392		0.612	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	110	0.00	0	G	NM_001040113		15831386	15831386	-1	no_errors	ENST00000396324	ensembl	human	known	69_37n	silent	122	36.13	69	SNP	0.998	T
NCOA7	135112	genome.wustl.edu	37	6	126243897	126243897	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr6:126243897G>C	ENST00000368357.3	+	14	2792	c.2440G>C	c.(2440-2442)Ggg>Cgg	p.G814R	NCOA7_ENST00000229634.9_Missense_Mutation_p.G699R|NCOA7_ENST00000392477.2_Missense_Mutation_p.G814R	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	814	TLD.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GTTAGAGCACGGGACCAGCTT	0.512																																						dbGAP											0													144.0	118.0	127.0					6																	126243897		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2440G>C	6.37:g.126243897G>C	ENSP00000357341:p.Gly814Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.G814R	ENST00000368357.3	37	c.2440	CCDS5132.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.360394|5.360394	0.95877|0.95877	.|.	.|.	ENSG00000111912|ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000433571;ENST00000368353|ENST00000448104;ENST00000438495;ENST00000444128	T;T;T;T|.	0.60920|.	0.15;0.15;0.15;0.15|.	5.97|5.97	5.97|5.97	0.96955|0.96955	TLDc (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.89938|0.89938	0.6860|0.6860	H|H	0.97365|0.97365	3.99|3.99	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.92484|0.92484	0.5995|0.5995	10|5	0.87932|.	D|.	0|.	-17.6707|-17.6707	20.0086|20.0086	0.97443|0.97443	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	803;108;803;814|.	B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08|.	.;.;.;NCOA7_HUMAN|.	R|P	814;814;699;124;124|108	ENSP00000357341:G814R;ENSP00000376269:G814R;ENSP00000229634:G699R;ENSP00000411002:G124R|.	ENSP00000229634:G699R|.	G|R	+|+	1|2	0|0	NCOA7|NCOA7	126285590|126285590	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.974000|0.974000	0.67602|0.67602	9.869000|9.869000	0.99810|0.99810	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GGG|CGG	NCOA7	-	pfam_TLDc,smart_TLDc	ENSG00000111912		0.512	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	HGNC	protein_coding	OTTHUMT00000042083.4	123	0.00	0	G	XM_059748		126243897	126243897	+1	no_errors	ENST00000368357	ensembl	human	known	69_37n	missense	63	38.24	39	SNP	1.000	C
NOTCH3	4854	genome.wustl.edu	37	19	15276820	15276820	+	Silent	SNP	G	G	A			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr19:15276820G>A	ENST00000263388.2	-	30	5520	c.5445C>T	c.(5443-5445)gaC>gaT	p.D1815D		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1815					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TAGCTGATGTGTCATCTGCCT	0.597																																						dbGAP											0													81.0	70.0	74.0					19																	15276820		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5445C>T	19.37:g.15276820G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.D1815	ENST00000263388.2	37	c.5445	CCDS12326.1	19																																																																																			NOTCH3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom	ENSG00000074181		0.597	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	36	0.00	0	G	NM_000435		15276820	15276820	-1	no_errors	ENST00000263388	ensembl	human	known	69_37n	silent	34	26.09	12	SNP	0.696	A
PARVA	55742	genome.wustl.edu	37	11	12399200	12399200	+	Silent	SNP	C	C	T			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr11:12399200C>T	ENST00000550549.1	+	1	55	c.6C>T	c.(4-6)gcC>gcT	p.A2A	PARVA_ENST00000334956.8_Silent_p.A42A|PARVA_ENST00000539723.1_Silent_p.A2A			Q9NVD7	PARVA_HUMAN	parvin, alpha	2					actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GCGCCATGGCCACCTCCCCGC	0.701																																						dbGAP											0													16.0	18.0	18.0					11																	12399200		1817	4056	5873	-	-	-	SO:0001819	synonymous_variant	0			AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.6C>T	11.37:g.12399200C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96C85|Q9HA48	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A42	ENST00000550549.1	37	c.126		11																																																																																			PARVA	-	superfamily_CH-domain	ENSG00000197702		0.701	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	PARVA	HGNC	protein_coding		19	0.00	0	C	NM_018222		12399200	12399200	+1	no_errors	ENST00000334956	ensembl	human	known	69_37n	silent	12	40.00	8	SNP	0.874	T
OR1S2	219958	genome.wustl.edu	37	11	57970851	57970851	+	Missense_Mutation	SNP	G	G	A	rs78572631	byFrequency	TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr11:57970851G>A	ENST00000302592.6	-	1	802	c.803C>T	c.(802-804)aCt>aTt	p.T268I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CACGCCTACAGTGGTTCCGTA	0.502													g|||	11	0.00219649	0.003	0.0	5008	,	,		21096	0.006		0.0	False		,,,				2504	0.001					dbGAP											0													170.0	143.0	152.0					11																	57970851		2201	4296	6497	-	-	-	SO:0001583	missense	0			BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.803C>T	11.37:g.57970851G>A	ENSP00000305469:p.Thr268Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFG5|Q96R85	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T268I	ENST00000302592.6	37	c.803	CCDS31545.1	11	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.898990	0.00058	.	.	ENSG00000197887	ENST00000302592	T	0.00039	8.85	4.75	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.133460	0.33772	N	0.004565	T	0.00039	0.0001	N	0.00471	-1.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31364	-0.9946	10	0.02654	T	1	.	7.508	0.27555	0.8239:0.0:0.1761:0.0	.	268	Q8NGQ3	OR1S2_HUMAN	I	268	ENSP00000305469:T268I	ENSP00000305469:T268I	T	-	2	0	OR1S2	57727427	0.000000	0.05858	0.435000	0.26784	0.089000	0.18198	0.319000	0.19522	0.392000	0.25172	-0.285000	0.09966	ACT	OR1S2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197887		0.502	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S2	HGNC	protein_coding	OTTHUMT00000394703.2	269	0.00	0	G	NM_001004459		57970851	57970851	-1	no_errors	ENST00000302592	ensembl	human	known	69_37n	missense	154	33.04	76	SNP	0.120	A
PCDH19	57526	genome.wustl.edu	37	X	99605659	99605659	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chrX:99605659G>C	ENST00000373034.4	-	4	4335	c.2660C>G	c.(2659-2661)gCc>gGc	p.A887G	PCDH19_ENST00000420881.2_Missense_Mutation_p.A840G|PCDH19_ENST00000255531.7_Missense_Mutation_p.A840G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	887					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GATTAAATGGGCTCGGCTATT	0.313																																						dbGAP											0													65.0	57.0	59.0					X																	99605659		1827	4084	5911	-	-	-	SO:0001583	missense	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.2660C>G	X.37:g.99605659G>C	ENSP00000362125:p.Ala887Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A887G	ENST00000373034.4	37	c.2660	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504838	0.64410	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.54279	0.58;0.64;0.58	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	N	0.08118	0	0.58432	D	0.999999	D;D;P	0.69078	0.997;0.97;0.949	D;P;P	0.75020	0.985;0.798;0.632	T	0.64554	-0.6380	10	0.51188	T	0.08	.	18.6728	0.91518	0.0:0.0:1.0:0.0	.	887;840;840	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	G	840;887;840	ENSP00000400327:A840G;ENSP00000362125:A887G;ENSP00000255531:A840G	ENSP00000255531:A840G	A	-	2	0	PCDH19	99492315	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.661000	0.91125	2.441000	0.82636	0.600000	0.82982	GCC	PCDH19	-	NULL	ENSG00000165194		0.313	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	190	0.52	1	G	NM_020766		99605659	99605659	-1	no_errors	ENST00000373034	ensembl	human	known	69_37n	missense	121	29.48	51	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, 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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	150	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	45	61.54	72	SNP	1.000	A
RARS	5917	genome.wustl.edu	37	5	167943847	167943847	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr5:167943847C>T	ENST00000231572.3	+	13	1571	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	RARS_ENST00000538719.1_Missense_Mutation_p.A300V	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	506					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ATCAAATATGCTGACCTTTCC	0.408																																						dbGAP											0													209.0	198.0	202.0					5																	167943847		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1517C>T	5.37:g.167943847C>T	ENSP00000231572:p.Ala506Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia	p.A506V	ENST00000231572.3	37	c.1517	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	c	31	5.096899	0.94197	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.65916	-0.09;-0.18	5.72	5.72	0.89469	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	H	0.98218	4.175	0.80722	D	1	P	0.49559	0.925	P	0.62298	0.9	D	0.91189	0.4982	10	0.87932	D	0	-11.9175	19.8807	0.96899	0.0:1.0:0.0:0.0	.	506	P54136	SYRC_HUMAN	V	506;300	ENSP00000231572:A506V;ENSP00000439108:A300V	ENSP00000231572:A506V	A	+	2	0	RARS	167876425	1.000000	0.71417	0.997000	0.53966	0.762000	0.43233	7.469000	0.80959	2.704000	0.92352	0.558000	0.71614	GCT	RARS	-	pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia	ENSG00000113643		0.408	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	186	0.00	0	C	NM_002887		167943847	167943847	+1	no_errors	ENST00000231572	ensembl	human	known	69_37n	missense	118	32.18	56	SNP	1.000	T
TAS2R31	259290	genome.wustl.edu	37	12	11183409	11183409	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr12:11183409C>G	ENST00000390675.2	-	1	597	c.526G>C	c.(526-528)Gat>Cat	p.D176H	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	176					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						ACAGTCGCATCTGAAAGGTAC	0.388																																						dbGAP											0													109.0	114.0	113.0					12																	11183409		2201	4297	6498	-	-	-	SO:0001583	missense	0			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.526G>C	12.37:g.11183409C>G	ENSP00000375093:p.Asp176His	Somatic		WXS	Illumina GAIIx	Phase_IV	P59547|Q17R84|Q645X5	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.D176H	ENST00000390675.2	37	c.526	CCDS53747.1	12	.	.	.	.	.	.	.	.	.	.	.	2.866	-0.234954	0.05983	.	.	ENSG00000256436	ENST00000390675	T	0.37235	1.21	2.62	-4.5	0.03493	.	.	.	.	.	T	0.18882	0.0453	N	0.25286	0.73	0.09310	N	1	B	0.18166	0.026	B	0.19148	0.024	T	0.24368	-1.0162	9	0.41790	T	0.15	.	4.1827	0.10383	0.0:0.4477:0.2187:0.3336	.	176	P59538	T2R31_HUMAN	H	176	ENSP00000375093:D176H	ENSP00000375093:D176H	D	-	1	0	TAS2R31	11074676	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.797000	0.00763	-0.542000	0.06249	-1.050000	0.02344	GAT	TAS2R31	-	pfam_TAS2_rcpt	ENSG00000256436		0.388	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R31	HGNC	protein_coding	OTTHUMT00000400233.1	291	0.00	0	C	NM_176885		11183409	11183409	-1	no_errors	ENST00000390675	ensembl	human	known	69_37n	missense	160	32.49	77	SNP	0.000	G
SBNO1	55206	genome.wustl.edu	37	12	123794131	123794131	+	Splice_Site	SNP	C	C	A			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr12:123794131C>A	ENST00000602398.1	-	27	3570		c.e27-1		SBNO1_ENST00000420886.2_Splice_Site|SBNO1_ENST00000602750.1_Splice_Site|SBNO1_ENST00000267176.4_Splice_Site			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)						regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GAACCAAGATCTTGAACAAGA	0.363																																						dbGAP											0													103.0	113.0	110.0					12																	123794131		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3443-1G>T	12.37:g.123794131C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Splice_Site	SNP	-	e26-1	ENST00000602398.1	37	c.3443-1	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607080	0.66558	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	.	.	.	4.65	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6049	0.62041	0.0:0.9195:0.0:0.0805	.	.	.	.	.	-1	.	.	.	-	.	.	SBNO1	122360084	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.512000	0.81728	2.279000	0.76181	0.467000	0.42956	.	SBNO1	-	-	ENSG00000139697		0.363	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	165	0.00	0	C	NM_018183	Intron	123794131	123794131	-1	no_errors	ENST00000420886	ensembl	human	known	69_37n	splice_site	101	11.40	13	SNP	1.000	A
RIMBP2	23504	genome.wustl.edu	37	12	130907060	130907060	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr12:130907060C>T	ENST00000261655.4	-	13	2571	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	RP11-117L5.4_ENST00000539532.1_lincRNA	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	803					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAAACCTCCGGCCCATGTG	0.567																																						dbGAP											0													42.0	36.0	38.0					12																	130907060		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2408G>A	12.37:g.130907060C>T	ENSP00000261655:p.Arg803Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.R803Q	ENST00000261655.4	37	c.2408	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152575	0.57259	.	.	ENSG00000060709	ENST00000261655	T	0.20463	2.07	4.9	2.76	0.32466	.	0.882556	0.09575	N	0.783724	T	0.19805	0.0476	L	0.56769	1.78	0.80722	D	1	B	0.23735	0.09	B	0.10450	0.005	T	0.05484	-1.0882	10	0.11794	T	0.64	-9.2794	9.6853	0.40094	0.0:0.7218:0.2024:0.0757	.	803	O15034	RIMB2_HUMAN	Q	803	ENSP00000261655:R803Q	ENSP00000261655:R803Q	R	-	2	0	RIMBP2	129473013	1.000000	0.71417	0.049000	0.19019	0.873000	0.50193	2.753000	0.47524	0.287000	0.22375	0.561000	0.74099	CGG	RIMBP2	-	NULL	ENSG00000060709		0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	31	0.00	0	C	NM_015347		130907060	130907060	-1	no_errors	ENST00000261655	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	1.000	T
TTLL8	164714	genome.wustl.edu	37	22	50472912	50472912	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chr22:50472912A>G	ENST00000440475.1	-	8	852	c.853T>C	c.(853-855)Tca>Cca	p.S285P	TTLL8_ENST00000266182.6_Intron			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	321	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TAATTTCTTGAATTGGAGATG	0.522																																						dbGAP											0													26.0	28.0	28.0					22																	50472912		2049	4212	6261	-	-	-	SO:0001583	missense	0					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000440475.1:c.853T>C	22.37:g.50472912A>G	ENSP00000387509:p.Ser285Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDV0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S285P	ENST00000440475.1	37	c.853		22	.	.	.	.	.	.	.	.	.	.	A	9.685	1.150268	0.21371	.	.	ENSG00000138892	ENST00000440475;ENST00000433387	T;T	0.46063	0.88;0.88	4.72	2.59	0.31030	.	.	.	.	.	T	0.45216	0.1331	M	0.76574	2.34	0.09310	N	1	.	.	.	.	.	.	T	0.34004	-0.9846	7	0.27785	T	0.31	.	5.0412	0.14460	0.6722:0.1551:0.1727:0.0	.	.	.	.	P	285;321	ENSP00000387509:S285P;ENSP00000392252:S321P	ENSP00000392252:S321P	S	-	1	0	TTLL8	48815039	0.014000	0.17966	0.010000	0.14722	0.982000	0.71751	0.280000	0.18790	0.282000	0.22254	0.459000	0.35465	TCA	TTLL8	-	NULL	ENSG00000138892		0.522	TTLL8-202	KNOWN	basic|appris_candidate	protein_coding	TTLL8	HGNC	protein_coding		33	0.00	0	A	NM_001080447		50472912	50472912	-1	no_errors	ENST00000440475	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	0.004	G
ZC3H12B	340554	genome.wustl.edu	37	X	64721753	64721753	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12N-01A-11D-A10Y-09	TCGA-C8-A12N-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e2af7f0c-3cf4-4ffe-b764-b4fd83bf7694	b9c55351-2b86-4ced-bf0b-0bc91ada0f91	g.chrX:64721753T>C	ENST00000338957.4	+	5	1242	c.1175T>C	c.(1174-1176)cTc>cCc	p.L392P	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L381P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	392							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGATGAGCTCCGCATCAGT	0.522																																						dbGAP											0													33.0	33.0	33.0					X																	64721753		1963	4137	6100	-	-	-	SO:0001583	missense	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1175T>C	X.37:g.64721753T>C	ENSP00000340839:p.Leu392Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.L392P	ENST00000338957.4	37	c.1175	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	T	16.62	3.175284	0.57692	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.56611	0.45;0.46	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74287	-0.3714	10	0.87932	D	0	-32.3646	12.9323	0.58294	0.0:0.0:0.0:1.0	.	381	Q5HYM0	ZC12B_HUMAN	P	392;381;328	ENSP00000340839:L392P;ENSP00000408077:L381P	ENSP00000218172:L328P	L	+	2	0	ZC3H12B	64638478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.953000	0.87836	1.734000	0.51633	0.417000	0.27973	CTC	ZC3H12B	-	NULL	ENSG00000102053		0.522	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	44	0.00	0	T	XM_293334		64721753	64721753	+1	no_errors	ENST00000338957	ensembl	human	known	69_37n	missense	35	35.19	19	SNP	1.000	C
