#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
ASZ1	136991	genome.wustl.edu	37	7	117022190	117022190	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27E-01A-11D-A16D-09	TCGA-D8-A27E-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eab47cbb-eab0-4dd6-9cd0-f2700e5b6227	bcaf419b-3c04-4bb8-84f1-e8bf4bf6895d	g.chr7:117022190G>C	ENST00000284629.2	-	8	883	c.821C>G	c.(820-822)aCa>aGa	p.T274R		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCCAAATGCTGTATATGAACT	0.294																																						dbGAP											0													94.0	95.0	95.0					7																	117022190		2202	4284	6486	-	-	-	SO:0001583	missense	0			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.821C>G	7.37:g.117022190G>C	ENSP00000284629:p.Thr274Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T274R	ENST00000284629.2	37	c.821	CCDS5772.1	7	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322111	0.60634	.	.	ENSG00000154438	ENST00000284629	D	0.85088	-1.94	5.07	4.16	0.48862	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.373151	0.26224	N	0.025609	D	0.85860	0.5795	L	0.43152	1.355	0.34065	D	0.657809	P;P	0.36647	0.563;0.563	B;P	0.49561	0.401;0.615	D	0.88329	0.2967	10	0.38643	T	0.18	-33.2482	13.4387	0.61099	0.0:0.0:0.8414:0.1586	.	274;274	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	R	274	ENSP00000284629:T274R	ENSP00000284629:T274R	T	-	2	0	ASZ1	116809426	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.591000	0.74090	1.047000	0.40274	0.591000	0.81541	ACA	ASZ1	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed	ENSG00000154438		0.294	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASZ1	HGNC	protein_coding	OTTHUMT00000138907.7	81	0.00	0	G	NM_130768		117022190	117022190	-1	no_errors	ENST00000284629	ensembl	human	known	69_37n	missense	57	26.92	21	SNP	1.000	C
CDK10	8558	genome.wustl.edu	37	16	89762012	89762012	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27E-01A-11D-A16D-09	TCGA-D8-A27E-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eab47cbb-eab0-4dd6-9cd0-f2700e5b6227	bcaf419b-3c04-4bb8-84f1-e8bf4bf6895d	g.chr16:89762012C>A	ENST00000353379.7	+	13	1038	c.995C>A	c.(994-996)cCg>cAg	p.P332Q	CDK10_ENST00000505473.1_Intron|CDK10_ENST00000331006.8_Missense_Mutation_p.P285Q	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	332					negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GCCTGTGAGCCGGAGCTCATG	0.682																																						dbGAP											0													18.0	24.0	22.0					16																	89762012		2176	4289	6465	-	-	-	SO:0001583	missense	0			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.995C>A	16.37:g.89762012C>A	ENSP00000338673:p.Pro332Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P332Q	ENST00000353379.7	37	c.995	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897073	0.91962	.	.	ENSG00000185324	ENST00000331006;ENST00000353379	T;T	0.71817	-0.6;-0.55	4.8	4.8	0.61643	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76097	0.3940	L	0.32530	0.975	0.80722	D	1	D;D	0.57899	0.968;0.981	P;D	0.63957	0.862;0.92	T	0.79198	-0.1902	10	0.66056	D	0.02	-36.7022	16.6179	0.84922	0.0:1.0:0.0:0.0	.	332;255	Q15131;Q15131-3	CDK10_HUMAN;.	Q	285;332	ENSP00000329957:P285Q;ENSP00000338673:P332Q	ENSP00000329957:P285Q	P	+	2	0	CDK10	88289513	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.483000	0.66838	2.205000	0.71048	0.557000	0.71058	CCG	CDK10	-	superfamily_Kinase-like_dom	ENSG00000185324		0.682	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	19	0.00	0	C			89762012	89762012	+1	no_errors	ENST00000353379	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	1.000	A
CEACAM19	56971	genome.wustl.edu	37	19	45175930	45175930	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A27E-01A-11D-A16D-09	TCGA-D8-A27E-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eab47cbb-eab0-4dd6-9cd0-f2700e5b6227	bcaf419b-3c04-4bb8-84f1-e8bf4bf6895d	g.chr19:45175930C>G	ENST00000403660.3	+	2	328	c.118C>G	c.(118-120)Cca>Gca	p.P40A	CEACAM19_ENST00000358777.4_Missense_Mutation_p.P40A|CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	40						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CCAGAAGATTCCAGAGCAGCC	0.572																																						dbGAP											0													61.0	53.0	56.0					19																	45175930		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"""Immunoglobulin superfamily / V-set domain containing"""	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.118C>G	19.37:g.45175930C>G	ENSP00000384887:p.Pro40Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XJ15|Q7Z693	Missense_Mutation	SNP	pfam_Ig_V-set	p.P40A	ENST00000403660.3	37	c.118	CCDS12641.1	19	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300695	0.60195	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	T;T	0.01725	4.67;4.67	3.96	3.96	0.45880	Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000886	T	0.10121	0.0248	M	0.83223	2.63	0.30930	N	0.727036	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00489	-1.1709	10	0.87932	D	0	-8.4705	11.4093	0.49917	0.0:1.0:0.0:0.0	.	40;40	Q5XJ15;Q7Z692	.;CEA19_HUMAN	A	40	ENSP00000351627:P40A;ENSP00000384887:P40A	ENSP00000351627:P40A	P	+	1	0	CEACAM19	49867770	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.278000	0.51662	2.051000	0.60960	0.555000	0.69702	CCA	CEACAM19	-	NULL	ENSG00000186567		0.572	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM19	HGNC	protein_coding	OTTHUMT00000323022.1	22	0.00	0	C	NM_020219		45175930	45175930	+1	no_errors	ENST00000403660	ensembl	human	known	69_37n	missense	15	50.00	15	SNP	1.000	G
COL6A6	131873	genome.wustl.edu	37	3	130383928	130383928	+	Missense_Mutation	SNP	G	G	A	rs544399652		TCGA-D8-A27E-01A-11D-A16D-09	TCGA-D8-A27E-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eab47cbb-eab0-4dd6-9cd0-f2700e5b6227	bcaf419b-3c04-4bb8-84f1-e8bf4bf6895d	g.chr3:130383928G>A	ENST00000358511.6	+	35	6615	c.6584G>A	c.(6583-6585)cGa>cAa	p.R2195Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R2195Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2195	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGCCCCCACGACCATTCCGA	0.403																																						dbGAP											0													69.0	62.0	64.0					3																	130383928		1844	4096	5940	-	-	-	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6584G>A	3.37:g.130383928G>A	ENSP00000351310:p.Arg2195Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R2195Q	ENST00000358511.6	37	c.6584	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731395	0.30684	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.89939	-2.57;-2.59	5.26	-5.83	0.02325	.	.	.	.	.	T	0.66655	0.2811	N	0.03608	-0.345	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.08055	0.001;0.003	T	0.57306	-0.7834	9	0.18710	T	0.47	.	3.1989	0.06643	0.3826:0.1074:0.4019:0.1082	.	2195;2195	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	Q	2195	ENSP00000351310:R2195Q;ENSP00000399236:R2195Q	ENSP00000351310:R2195Q	R	+	2	0	COL6A6	131866618	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.740000	0.04861	-1.193000	0.02688	-0.273000	0.10243	CGA	COL6A6	-	NULL	ENSG00000206384		0.403	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	62	0.00	0	G	NM_001102608		130383928	130383928	+1	no_errors	ENST00000358511	ensembl	human	known	69_37n	missense	45	29.69	19	SNP	0.000	A
MAPK14	1432	genome.wustl.edu	37	6	36041850	36041850	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27E-01A-11D-A16D-09	TCGA-D8-A27E-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eab47cbb-eab0-4dd6-9cd0-f2700e5b6227	bcaf419b-3c04-4bb8-84f1-e8bf4bf6895d	g.chr6:36041850G>A	ENST00000229794.4	+	6	860	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	MAPK14_ENST00000468133.1_Missense_Mutation_p.V81M|MAPK14_ENST00000229795.3_Missense_Mutation_p.V158M|MAPK14_ENST00000310795.4_Missense_Mutation_p.V158M	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)	p.V158M(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TAATCTAGCTGTGAATGAAGA	0.378																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	dbGAP											2	Substitution - Missense(2)	lung(2)											138.0	125.0	129.0					6																	36041850		2203	4300	6503	-	-	-	SO:0001583	missense	0			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.472G>A	6.37:g.36041850G>A	ENSP00000229794:p.Val158Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38	p.V158M	ENST00000229794.4	37	c.472	CCDS4816.1	6	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717502	0.89205	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133;ENST00000310795;ENST00000472333	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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	0.78947	0.4364	M	0.67625	2.065	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.994;0.997;0.996;0.99;0.996	T	0.80211	-0.1476	10	0.87932	D	0	-10.6867	19.6531	0.95825	0.0:0.0:1.0:0.0	.	158;158;158;158;158	B5TY32;Q16539-4;Q16539;Q16539-2;Q16539-3	.;.;MK14_HUMAN;.;.	M	158;158;81;158;81	ENSP00000229795:V158M;ENSP00000229794:V158M;ENSP00000419837:V81M;ENSP00000308669:V158M;ENSP00000419141:V81M	ENSP00000229794:V158M	V	+	1	0	MAPK14	36149828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.588000	0.98232	2.652000	0.90054	0.585000	0.79938	GTG	MAPK14	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000112062		0.378	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK14	HGNC	protein_coding	OTTHUMT00000357450.1	75	0.00	0	G	NM_001315		36041850	36041850	+1	no_errors	ENST00000229794	ensembl	human	known	69_37n	missense	62	23.46	19	SNP	1.000	A
MYO5B	4645	genome.wustl.edu	37	18	47480795	47480795	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27E-01A-11D-A16D-09	TCGA-D8-A27E-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eab47cbb-eab0-4dd6-9cd0-f2700e5b6227	bcaf419b-3c04-4bb8-84f1-e8bf4bf6895d	g.chr18:47480795C>A	ENST00000285039.7	-	13	1855	c.1556G>T	c.(1555-1557)gGa>gTa	p.G519V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	519	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTGGTCAGTTCCTTTGGGGAC	0.582																																						dbGAP											0													73.0	78.0	76.0					18																	47480795		2002	4158	6160	-	-	-	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1556G>T	18.37:g.47480795C>A	ENSP00000285039:p.Gly519Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G519V	ENST00000285039.7	37	c.1556	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572281	0.86542	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.88046	-2.33	4.79	4.79	0.61399	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	D	0.94596	0.7792	10	0.87932	D	0	.	17.4649	0.87629	0.0:1.0:0.0:0.0	.	518;519	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	V	519;518	ENSP00000285039:G519V	ENSP00000285039:G519V	G	-	2	0	MYO5B	45734793	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.580000	0.82523	2.192000	0.70111	0.462000	0.41574	GGA	MYO5B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000167306		0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	72	0.00	0	C			47480795	47480795	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	64	27.27	24	SNP	1.000	A
OTUD4	54726	genome.wustl.edu	37	4	146058902	146058902	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27E-01A-11D-A16D-09	TCGA-D8-A27E-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eab47cbb-eab0-4dd6-9cd0-f2700e5b6227	bcaf419b-3c04-4bb8-84f1-e8bf4bf6895d	g.chr4:146058902C>T	ENST00000447906.2	-	21	3212	c.3025G>A	c.(3025-3027)Gcc>Acc	p.A1009T	OTUD4_ENST00000454497.2_Missense_Mutation_p.A944T|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1009					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACAGAGTTGGCCCCAGGGCTG	0.408																																						dbGAP											0													138.0	145.0	143.0					4																	146058902		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3025G>A	4.37:g.146058902C>T	ENSP00000395487:p.Ala1009Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.A1009T	ENST00000447906.2	37	c.3025		4	.	.	.	.	.	.	.	.	.	.	C	11.37	1.618278	0.28801	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34072	1.38;1.38	5.65	3.87	0.44632	.	0.181152	0.38005	N	0.001851	T	0.21801	0.0525	N	0.17082	0.46	0.80722	D	1	B;B	0.27166	0.17;0.028	B;B	0.23419	0.046;0.007	T	0.07177	-1.0786	10	0.51188	T	0.08	-4.5572	9.7398	0.40411	0.0:0.7794:0.1422:0.0784	.	1009;1008	G3V0I6;Q01804	.;OTUD4_HUMAN	T	944;1009	ENSP00000409279:A944T;ENSP00000395487:A1009T	ENSP00000395487:A1009T	A	-	1	0	OTUD4	146278352	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.100000	0.31025	1.586000	0.49944	0.655000	0.94253	GCC	OTUD4	-	NULL	ENSG00000164164		0.408	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	114	0.00	0	C	NM_017493		146058902	146058902	-1	no_errors	ENST00000447906	ensembl	human	known	69_37n	missense	62	32.61	30	SNP	1.000	T
PCED1A	64773	genome.wustl.edu	37	20	2820525	2820525	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27E-01A-11D-A16D-09	TCGA-D8-A27E-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eab47cbb-eab0-4dd6-9cd0-f2700e5b6227	bcaf419b-3c04-4bb8-84f1-e8bf4bf6895d	g.chr20:2820525G>A	ENST00000360652.2	-	2	536	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	VPS16_ENST00000380445.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.R12C|VPS16_ENST00000380469.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	12																	CGCAGCGGGCGGCGCGGCTCC	0.637																																						dbGAP											0													80.0	73.0	75.0					20																	2820525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.34C>T	20.37:g.2820525G>A	ENSP00000353868:p.Arg12Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.R12C	ENST00000360652.2	37	c.34	CCDS13035.1	20	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355922	0.61293	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000380531;ENST00000448755;ENST00000439542	T;T;T;T	0.49432	0.78;0.82;0.8;0.85	3.83	2.85	0.33270	.	0.377525	0.19589	N	0.110673	T	0.33818	0.0876	L	0.36672	1.1	0.36572	D	0.873066	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.36187	-0.9758	10	0.72032	D	0.01	-1.497	5.6104	0.17402	0.1617:0.0:0.8383:0.0	.	12;12	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	C	12	ENSP00000349334:R12C;ENSP00000353868:R12C;ENSP00000388935:R12C;ENSP00000401711:R12C	ENSP00000349334:R12C	R	-	1	0	FAM113A	2768525	0.906000	0.30813	0.748000	0.31131	0.727000	0.41649	0.391000	0.20784	1.112000	0.41740	0.655000	0.94253	CGC	PCED1A	-	NULL	ENSG00000132635		0.637	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1A	HGNC	protein_coding	OTTHUMT00000077676.2	32	0.00	0	G	NM_022760		2820525	2820525	-1	no_errors	ENST00000360652	ensembl	human	known	69_37n	missense	19	40.62	13	SNP	0.805	A
