#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_ORegAnno_bin	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
ACSS3	79611	genome.wustl.edu	37	12	81627233	81627233	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr12:81627233G>T	ENST00000548058.1	+	13	2612	c.1702G>T	c.(1702-1704)Gca>Tca	p.A568S	ACSS3_ENST00000261206.3_Missense_Mutation_p.A567S|ACSS3_ENST00000548324.1_Missense_Mutation_p.A250S			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	568						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CAGAATTTCTGCAGGCGCCAT	0.388																																						dbGAP											0													205.0	200.0	202.0					12																	81627233		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1702G>T	12.37:g.81627233G>T	ENSP00000449535:p.Ala568Ser		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448	p.A568S	ENST00000548058.1	37	c.1702	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689324	0.48097	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.48201	2.88;2.88;0.82	5.84	4.96	0.65561	AMP-dependent synthetase/ligase (1);	0.053236	0.85682	D	0.000000	T	0.27731	0.0682	N	0.03917	-0.325	0.47374	D	0.999402	B;B	0.29612	0.164;0.251	B;B	0.29077	0.098;0.067	T	0.19031	-1.0318	10	0.56958	D	0.05	-5.8971	14.614	0.68534	0.0704:0.0:0.9296:0.0	.	250;568	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	S	568;567;250	ENSP00000449535:A568S;ENSP00000261206:A567S;ENSP00000448965:A250S	ENSP00000261206:A567S	A	+	1	0	ACSS3	80151364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.579000	0.53900	1.491000	0.48482	0.650000	0.86243	GCA	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.388	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	53	0.00	0	G	NM_024560		81627233	81627233	+1	no_errors	ENST00000548058	ensembl	human	known	69_37n	missense	96	45.76	81	SNP	0.997	T
AP2A1	160	genome.wustl.edu	37	19	50302103	50302103	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr19:50302103G>T	ENST00000359032.5	+	8	859	c.859G>T	c.(859-861)Gtg>Ttg	p.V287L	AP2A1_ENST00000354293.5_Missense_Mutation_p.V287L	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	287					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TCTGGAGACTGTGCTCAACAA	0.607																																						dbGAP											0													30.0	34.0	33.0					19																	50302103		1984	4151	6135	-	-	-	SO:0001583	missense	0			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.859G>T	19.37:g.50302103G>T	ENSP00000351926:p.Val287Leu		Q96CI7|Q96PP6|Q96PP7|Q9H070	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.V287L	ENST00000359032.5	37	c.859	CCDS46148.1	19	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306900	0.60305	.	.	ENSG00000196961	ENST00000354293;ENST00000359032	T;T	0.20332	2.08;2.08	4.19	4.19	0.49359	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.068988	0.64402	D	0.000017	T	0.19725	0.0474	L	0.50919	1.6	0.41209	D	0.986427	B;B	0.27997	0.004;0.197	B;B	0.33196	0.031;0.159	T	0.06588	-1.0818	10	0.49607	T	0.09	.	6.5162	0.22248	0.2019:0.0:0.7981:0.0	.	287;287	O95782-2;O95782	.;AP2A1_HUMAN	L	287	ENSP00000346246:V287L;ENSP00000351926:V287L	ENSP00000346246:V287L	V	+	1	0	AP2A1	54993915	1.000000	0.71417	0.967000	0.41034	0.997000	0.91878	6.108000	0.71522	2.328000	0.79073	0.561000	0.74099	GTG	AP2A1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu	ENSG00000196961		0.607	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1	27	0.00	0	G			50302103	50302103	+1	no_errors	ENST00000359032	ensembl	human	known	69_37n	missense	22	48.84	21	SNP	0.991	T
BIRC6	57448	genome.wustl.edu	37	2	32640667	32640669	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	AAT	AAT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr2:32640667_32640669delAAT	ENST00000421745.2	+	10	2442_2444	c.2308_2310delAAT	c.(2308-2310)aatdel	p.N770del		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	770					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAATAATTTAAATAAATTAAACT	0.384																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2308_2310delAAT	2.37:g.32640667_32640669delAAT	ENSP00000393596:p.Asn770del		Q9ULD1	In_Frame_Del	DEL	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.N770in_frame_del	ENST00000421745.2	37	c.2308_2310	CCDS33175.2	2																																																																																			BIRC6	-	NULL	ENSG00000115760		0.384	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	33	0.00	0	AAT	NM_016252		32640667	32640669	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	in_frame_del	11	42.11	8	DEL	1.000:1.000:1.000	-
CA1	759	genome.wustl.edu	37	8	86242048	86242048	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr8:86242048A>C	ENST00000523953.1	-	8	1585	c.539T>G	c.(538-540)tTt>tGt	p.F180C	CA1_ENST00000542576.1_Missense_Mutation_p.F180C|CA1_ENST00000256119.5_Missense_Mutation_p.F180C|CA1_ENST00000431316.1_Missense_Mutation_p.F180C|CA1_ENST00000523022.1_Missense_Mutation_p.F180C|CA1_ENST00000432364.2_Missense_Mutation_p.F180C|CA1_ENST00000522389.1_Missense_Mutation_p.F46C			P00915	CAH1_HUMAN	carbonic anhydrase I	180					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	AGAGGGGTCAAAATTTGTGAA	0.393																																						dbGAP											0													61.0	58.0	59.0					8																	86242048		2203	4300	6503	-	-	-	SO:0001583	missense	0			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.539T>G	8.37:g.86242048A>C	ENSP00000430656:p.Phe180Cys			Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.F180C	ENST00000523953.1	37	c.539	CCDS6237.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.942180|3.942180	0.73672|0.73672	.|.	.|.	ENSG00000133742|ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000522389;ENST00000524324;ENST00000517618;ENST00000519991;ENST00000520663|ENST00000521679	T;T;T;T;T;T;T;T;T;T;T|.	0.71222|.	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55;-0.55|.	4.5|4.5	4.5|4.5	0.54988|0.54988	Carbonic anhydrase, alpha-class, catalytic domain (4);|.	0.049574|0.049574	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.84561|0.84561	0.5499|0.5499	M|M	0.93898|0.93898	3.47|3.47	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.88573|0.88573	0.3131|0.3131	10|6	0.72032|.	D|.	0.01|.	-23.1804|-23.1804	13.0657|13.0657	0.59032|0.59032	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	180|.	P00915|.	CAH1_HUMAN|.	C|L	180;180;180;180;180;180;46;114;180;67;67|116	ENSP00000430656:F180C;ENSP00000256119:F180C;ENSP00000392338:F180C;ENSP00000443517:F180C;ENSP00000401551:F180C;ENSP00000429798:F180C;ENSP00000427773:F46C;ENSP00000428923:F114C;ENSP00000430861:F180C;ENSP00000430543:F67C;ENSP00000430571:F67C|.	ENSP00000256119:F180C|.	F|F	-|-	2|3	0|2	CA1|CA1	86429300|86429300	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	6.811000|6.811000	0.75221|0.75221	2.009000|2.009000	0.58944|0.58944	0.533000|0.533000	0.62120|0.62120	TTT|TTT	CA1	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000133742		0.393	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA1	HGNC	protein_coding	OTTHUMT00000381067.1	40	0.00	0	A	NM_001738		86242048	86242048	-1	no_errors	ENST00000256119	ensembl	human	known	69_37n	missense	49	36.36	28	SNP	1.000	C
CADM2	253559	genome.wustl.edu	37	3	86115884	86115884	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr3:86115884C>A	ENST00000407528.2	+	10	1321	c.1259C>A	c.(1258-1260)gCt>gAt	p.A420D	CADM2_ENST00000405615.2_Missense_Mutation_p.A422D|CADM2_ENST00000383699.3_Missense_Mutation_p.A389D	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	420					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATTATCAATGCTGAAGGCAGC	0.383																																						dbGAP											0													110.0	107.0	108.0					3																	86115884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1259C>A	3.37:g.86115884C>A	ENSP00000384575:p.Ala420Asp		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.A422D	ENST00000407528.2	37	c.1265	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723216	0.89298	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.64991	0.01;-0.13;-0.12	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	N	0.16307	0.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	T	0.73861	-0.3849	10	0.72032	D	0.01	.	19.2092	0.93747	0.0:1.0:0.0:0.0	.	422;389;420	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	D	389;420;422	ENSP00000373200:A389D;ENSP00000384575:A420D;ENSP00000384193:A422D	ENSP00000373200:A389D	A	+	2	0	CADM2	86198574	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.769000	0.85360	2.607000	0.88179	0.460000	0.39030	GCT	CADM2	-	NULL	ENSG00000175161		0.383	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	54	0.00	0	C	NM_153184		86115884	86115884	+1	no_errors	ENST00000405615	ensembl	human	known	69_37n	missense	40	45.95	34	SNP	1.000	A
CDK12	51755	genome.wustl.edu	37	17	37618580	37618580	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr17:37618580G>A	ENST00000447079.4	+	1	289	c.256G>A	c.(256-258)Gac>Aac	p.D86N	CDK12_ENST00000430627.2_Missense_Mutation_p.D86N	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	86					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTTCTCCGATGACATGGCCTT	0.547			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												dbGAP		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													88.0	74.0	79.0					17																	37618580		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.256G>A	17.37:g.37618580G>A	ENSP00000398880:p.Asp86Asn		A7E2B2|B4DYX4|B9EIQ6|O94978	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.D86N	ENST00000447079.4	37	c.256	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551300	0.65311	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.41758	0.99;0.99	4.56	4.56	0.56223	.	0.000000	0.47852	D	0.000210	T	0.50973	0.1647	N	0.22421	0.69	0.31844	N	0.62314	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.73380	0.977;0.98;0.969	T	0.58901	-0.7554	10	0.51188	T	0.08	-11.0604	17.5111	0.87760	0.0:0.0:1.0:0.0	.	86;86;86	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	N	86	ENSP00000407720:D86N;ENSP00000398880:D86N	ENSP00000407720:D86N	D	+	1	0	CDK12	34872106	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	6.489000	0.73641	2.351000	0.79841	0.561000	0.74099	GAC	CDK12	-	NULL	ENSG00000167258		0.547	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	15	0.00	0	G	NM_016507		37618580	37618580	+1	no_errors	ENST00000447079	ensembl	human	known	69_37n	missense	30	44.44	24	SNP	0.992	A
CDKN1B	1027	genome.wustl.edu	37	12	12870935	12870936	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr12:12870935_12870936insGC	ENST00000228872.4	+	1	878_879	c.162_163insGC	c.(163-165)gcgfs	p.A55fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.A55fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	55					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		ACATGGAAGAGGCGAGCCAGCG	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.163_164dupGC	12.37:g.12870936_12870937dupGC	ENSP00000228872:p.Ala55fs		Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	pfam_CDI	p.S55fs	ENST00000228872.4	37	c.162_163	CCDS8653.1	12																																																																																			CDKN1B	-	pfam_CDI	ENSG00000111276		0.579	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1B	HGNC	protein_coding	OTTHUMT00000313878.2	25	0.00	0	-	NM_004064		12870935	12870936	+1	no_errors	ENST00000228872	ensembl	human	known	69_37n	frame_shift_ins	34	40.35	23	INS	0.982:0.980	GC
CNTNAP2	26047	genome.wustl.edu	37	7	147183037	147183037	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr7:147183037A>C	ENST00000361727.3	+	11	2197	c.1681A>C	c.(1681-1683)Aat>Cat	p.N561H		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	561	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGTGTGCCCAATCACTGTGA	0.453										HNSCC(39;0.1)																												dbGAP											0													182.0	164.0	170.0					7																	147183037		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1681A>C	7.37:g.147183037A>C	ENSP00000354778:p.Asn561His		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.N561H	ENST00000361727.3	37	c.1681	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772499	0.69992	.	.	ENSG00000174469	ENST00000361727	D	0.94687	-3.49	5.88	4.72	0.59763	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.97823	0.9285	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97969	1.0342	10	0.72032	D	0.01	.	12.2144	0.54398	0.8572:0.1428:0.0:0.0	.	561	Q9UHC6	CNTP2_HUMAN	H	561	ENSP00000354778:N561H	ENSP00000354778:N561H	N	+	1	0	CNTNAP2	146813970	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.207000	0.95064	1.028000	0.39785	-0.321000	0.08615	AAT	CNTNAP2	-	pfam_EGF-like_dom,smart_EGF-like,pfscan_EG-like_dom	ENSG00000174469		0.453	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	45	0.00	0	A			147183037	147183037	+1	no_errors	ENST00000361727	ensembl	human	known	69_37n	missense	76	45.71	64	SNP	1.000	C
CROCCP2	84809	genome.wustl.edu	37	1	16949959	16949959	+	lincRNA	SNP	G	G	A	rs539437809	byFrequency	TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr1:16949959G>A	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCAGAGATTCGATGGGGAACG	0.483													.|||	336	0.0670927	0.0484	0.0879	5008	,	,		85264	0.0446		0.0517	False		,,,				2504	0.1166					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.16949959G>A			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.483	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	11	0.00	0	G	NR_026752.1		16949959	16949959	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	3	62.50	5	SNP	0.001	A
DNAH12	201625	genome.wustl.edu	37	3	57443861	57443861	+	Silent	SNP	G	G	A			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr3:57443861G>A	ENST00000351747.2	-	21	3129	c.2949C>T	c.(2947-2949)aaC>aaT	p.N983N		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	983	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CAAGATATGCGTTAAGACCTT	0.318																																						dbGAP											0													136.0	118.0	123.0					3																	57443861		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.2949C>T	3.37:g.57443861G>A			A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N983	ENST00000351747.2	37	c.2949		3																																																																																			DNAH12	-	pfam_Dynein_heavy_dom-2	ENSG00000174844		0.318	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		64	0.00	0	G	NM_178504		57443861	57443861	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	silent	56	43.56	44	SNP	0.999	A
DST	667	genome.wustl.edu	37	6	56333793	56333793	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr6:56333793A>T	ENST00000361203.3	-	93	21603	c.21596T>A	c.(21595-21597)tTc>tAc	p.F7199Y	DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Missense_Mutation_p.F4896Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Missense_Mutation_p.F5113Y			Q03001	DYST_HUMAN	dystonin	7308	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTTCCCAGGAAGAACTGATA	0.343																																						dbGAP											0													53.0	47.0	49.0					6																	56333793		1814	4077	5891	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21596T>A	6.37:g.56333793A>T	ENSP00000354508:p.Phe7199Tyr		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_EF_HAND_2	p.F4896Y	ENST00000361203.3	37	c.14687		6	.	.	.	.	.	.	.	.	.	.	A	12.66	2.004870	0.35415	.	.	ENSG00000151914	ENST00000244364;ENST00000370788;ENST00000361203	T;T;T	0.62788	1.14;0.07;0.0	5.57	5.57	0.84162	Growth-arrest-specific protein 2 domain (5);	.	.	.	.	T	0.42899	0.1223	N	0.14661	0.345	0.24734	N	0.993076	D;B;B	0.53619	0.961;0.012;0.03	P;B;B	0.48770	0.589;0.044;0.02	T	0.53041	-0.8494	8	0.49607	T	0.09	.	16.0347	0.80617	1.0:0.0:0.0:0.0	.	5195;7308;4896	Q5TBT1;Q03001;Q03001-8	.;DYST_HUMAN;.	Y	4896;5113;7199	ENSP00000244364:F4896Y;ENSP00000359824:F5113Y;ENSP00000354508:F7199Y	ENSP00000244364:F4896Y	F	-	2	0	DST	56441752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.710000	0.54860	2.248000	0.74166	0.533000	0.62120	TTC	DST	-	pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom	ENSG00000151914		0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	45	0.00	0	A	NM_001723		56333793	56333793	-1	no_errors	ENST00000244364	ensembl	human	known	69_37n	missense	43	14.00	7	SNP	1.000	T
FAM136A	84908	genome.wustl.edu	37	2	70527971	70527971	+	Splice_Site	SNP	C	C	T			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr2:70527971C>T	ENST00000037869.3	-	2	307		c.e2+1		FAM136A_ENST00000430566.1_Splice_Site|FAM136A_ENST00000450256.1_Splice_Site|AC022201.5_ENST00000445084.1_RNA	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATATTTCTCACCTGGAACTTC	0.507																																						dbGAP											0													128.0	137.0	134.0					2																	70527971		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.228+1G>A	2.37:g.70527971C>T			Q96SS3	Splice_Site	SNP	-	e2+1	ENST00000037869.3	37	c.228+1	CCDS1904.1	2	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884907	0.51908	.	.	ENSG00000035141	ENST00000037869;ENST00000430566;ENST00000438759	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6575	0.85232	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM136A	70381475	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	7.261000	0.78400	2.333000	0.79357	0.555000	0.69702	.	FAM136A	-	-	ENSG00000035141		0.507	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM136A	HGNC	protein_coding	OTTHUMT00000251869.2	17	0.00	0	C	NM_032822	Intron	70527971	70527971	-1	no_errors	ENST00000037869	ensembl	human	known	69_37n	splice_site	42	17.65	9	SNP	1.000	T
FUT6	2528	genome.wustl.edu	37	19	5832191	5832191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr19:5832191G>A	ENST00000318336.4	-	3	1582	c.388C>T	c.(388-390)Cga>Tga	p.R130*	FUT6_ENST00000592563.1_Nonsense_Mutation_p.R130*|FUT6_ENST00000524754.1_Nonsense_Mutation_p.R130*|FUT6_ENST00000527106.1_Nonsense_Mutation_p.R130*|FUT6_ENST00000286955.5_Nonsense_Mutation_p.R130*	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	130					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CAGATCCATCGCTGCCCCTGC	0.612																																						dbGAP											0													68.0	54.0	59.0					19																	5832191		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.388C>T	19.37:g.5832191G>A	ENSP00000313398:p.Arg130*		A6NEX0|D6W637|Q9UND8	Nonsense_Mutation	SNP	pfam_Glyco_trans_10	p.R130*	ENST00000318336.4	37	c.388	CCDS12152.1	19	.	.	.	.	.	.	.	.	.	.	G	42	9.655280	0.99230	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	.	.	.	3.17	0.808	0.18719	.	0.310966	0.27720	N	0.018123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2166	0.20658	0.3747:0.0:0.6253:0.0	.	.	.	.	X	130	.	ENSP00000286955:R130X	R	-	1	2	FUT6	5783191	0.750000	0.28316	0.013000	0.15412	0.006000	0.05464	1.004000	0.29822	0.131000	0.18576	0.436000	0.28706	CGA	FUT6	-	pfam_Glyco_trans_10	ENSG00000156413		0.612	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT6	HGNC	protein_coding	OTTHUMT00000394218.2	10	0.00	0	G	NM_000150		5832191	5832191	-1	no_errors	ENST00000592563	ensembl	human	known	69_37n	nonsense	28	40.43	19	SNP	0.961	A
GNAI2	2771	genome.wustl.edu	37	3	50289959	50289959	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr3:50289959C>T	ENST00000313601.6	+	3	676	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	GNAI2_ENST00000451956.1_Missense_Mutation_p.P61S|GNAI2_ENST00000536647.1_Missense_Mutation_p.P17S|GNAI2_ENST00000440628.1_Missense_Mutation_p.P46S|GNAI2_ENST00000266027.5_Missense_Mutation_p.P82S|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000422163.1_Missense_Mutation_p.P82S	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	98					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTTTGCCGACCCCTCCAGAGC	0.592																																						dbGAP											0													56.0	51.0	53.0					3																	50289959		2203	4300	6503	-	-	-	SO:0001583	missense	0			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.292C>T	3.37:g.50289959C>T	ENSP00000312999:p.Pro98Ser		B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.P98S	ENST00000313601.6	37	c.292	CCDS2813.1	3	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747710	0.30955	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	4.77	-1.75	0.08031	G protein alpha subunit, helical insertion (2);	0.689041	0.15073	N	0.282106	T	0.20577	0.0495	N	0.26042	0.785	0.41042	D	0.985233	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.13407	0.003;0.005;0.009;0.005	T	0.12268	-1.0554	10	0.18710	T	0.47	.	1.9621	0.03388	0.2388:0.3796:0.2332:0.1485	.	61;98;82;82	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	S	82;98;17;98;46;61;82	ENSP00000406871:P82S;ENSP00000312999:P98S;ENSP00000444360:P17S;ENSP00000395736:P46S;ENSP00000406369:P61S;ENSP00000266027:P82S	ENSP00000266027:P82S	P	+	1	0	GNAI2	50264963	0.000000	0.05858	0.036000	0.18154	0.326000	0.28443	-0.611000	0.05622	-0.491000	0.06697	0.563000	0.77884	CCC	GNAI2	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su	ENSG00000114353		0.592	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI2	HGNC	protein_coding	OTTHUMT00000346688.1	17	0.00	0	C	NM_002070		50289959	50289959	+1	no_errors	ENST00000313601	ensembl	human	known	69_37n	missense	26	39.53	17	SNP	0.962	T
HLA-C	3107	genome.wustl.edu	37	6	31238992	31238992	+	Silent	SNP	G	G	C	rs41550715	byFrequency	TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr6:31238992G>C	ENST00000376228.5	-	3	491	c.477C>G	c.(475-477)gcC>gcG	p.A159A	HLA-C_ENST00000383329.3_Silent_p.A159A	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	159	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGGTGTCCGCGGCGGTCCAGG	0.701													g|||	2028	0.404952	0.4607	0.4207	5008	,	,		11637	0.3621		0.3986	False		,,,				2504	0.3691					dbGAP											0													31.0	24.0	26.0					6																	31238992		2155	4200	6355	-	-	-	SO:0001819	synonymous_variant	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.477C>G	6.37:g.31238992G>C			O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2	p.R159G	ENST00000376228.5	37	c.475	CCDS34393.1	6	565	0.2586996336996337	174	0.35365853658536583	100	0.27624309392265195	110	0.19230769230769232	181	0.23878627968337732	.	7.548	0.662130	0.14645	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.81	-1.56	0.08532	.	.	.	.	.	T	0.07458	0.0188	.	.	.	0.34832	P	0.26017900000000005	.	.	.	.	.	.	T	0.33523	-0.9865	3	.	.	.	.	1.6842	0.02838	0.3131:0.2354:0.3361:0.1154	rs41550715	.	.	.	G	159	.	.	R	-	1	0	HLA-C	31346971	0.000000	0.05858	0.004000	0.12327	0.042000	0.13812	-4.055000	0.00304	-0.382000	0.07870	0.305000	0.20034	CGC	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000204525		0.701	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	8	0.00	0	G	NM_002117		31238992	31238992	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000415537	ensembl	human	novel	69_37n	missense	9	43.75	7	SNP	0.021	C
KIAA1257	57501	genome.wustl.edu	37	3	128706484	128706484	+	Silent	SNP	G	G	A			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr3:128706484G>A	ENST00000265068.5	-	4	809	c.642C>T	c.(640-642)gaC>gaT	p.D214D	KIAA1257_ENST00000515659.1_Silent_p.D102D|KIAA1257_ENST00000511438.1_Silent_p.D214D|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	214										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTCCCACGTCGTCTGTGAAGC	0.418																																						dbGAP											0													128.0	126.0	126.0					3																	128706484		1847	4082	5929	-	-	-	SO:0001819	synonymous_variant	0			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.642C>T	3.37:g.128706484G>A			Q8IXY7|Q8N5T4	Silent	SNP	NULL	p.D214	ENST00000265068.5	37	c.642	CCDS46905.1	3																																																																																			KIAA1257	-	NULL	ENSG00000114656		0.418	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	KIAA1257	HGNC	protein_coding	OTTHUMT00000358430.1	66	0.00	0	G	NM_020741		128706484	128706484	-1	no_errors	ENST00000265068	ensembl	human	known	69_37n	silent	111	21.28	30	SNP	0.001	A
MPO	4353	genome.wustl.edu	37	17	56356745	56356745	+	Silent	SNP	G	G	A			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr17:56356745G>A	ENST00000225275.3	-	5	767	c.591C>T	c.(589-591)cgC>cgT	p.R197R	MPO_ENST00000340482.3_Silent_p.R229R|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	197					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CCGGCAGCCAGCGCACAAAGG	0.711																																						dbGAP											0													13.0	17.0	16.0					17																	56356745		2198	4292	6490	-	-	-	SO:0001819	synonymous_variant	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.591C>T	17.37:g.56356745G>A			A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R229	ENST00000225275.3	37	c.687	CCDS11604.1	17																																																																																			MPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	ENSG00000005381		0.711	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	23	0.00	0	G			56356745	56356745	-1	no_errors	ENST00000340482	ensembl	human	known	69_37n	silent	13	45.83	11	SNP	1.000	A
MUC15	143662	genome.wustl.edu	37	11	26586728	26586728	+	Silent	SNP	C	C	T	rs570539672		TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr11:26586728C>T	ENST00000455601.2	-	2	796	c.678G>A	c.(676-678)acG>acA	p.T226T	MUC15_ENST00000436318.2_Silent_p.T253T|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Silent_p.T253T|MUC15_ENST00000529533.1_Silent_p.T253T|MUC15_ENST00000527569.1_Silent_p.T253T|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	226					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GGGGATCTGACGTATTTGGAA	0.338													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18948	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													122.0	123.0	123.0					11																	26586728		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.678G>A	11.37:g.26586728C>T			B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	NULL	p.T253	ENST00000455601.2	37	c.759	CCDS7859.1	11																																																																																			MUC15	-	NULL	ENSG00000169550		0.338	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1	72	0.00	0	C	NM_145650		26586728	26586728	-1	no_errors	ENST00000436318	ensembl	human	known	69_37n	silent	154	18.09	34	SNP	0.273	T
MUC16	94025	genome.wustl.edu	37	19	9000557	9000557	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr19:9000557G>A	ENST00000397910.4	-	54	40630	c.40427C>T	c.(40426-40428)cCt>cTt	p.P13476L	MUC16_ENST00000380951.5_Missense_Mutation_p.P117L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13478					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAGGAGAGGGCTGGCGGC	0.408																																						dbGAP											0													134.0	112.0	119.0					19																	9000557		1912	4129	6041	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40427C>T	19.37:g.9000557G>A	ENSP00000381008:p.Pro13476Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P13476L	ENST00000397910.4	37	c.40427	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.70|11.70	1.715708|1.715708	0.30413|0.30413	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.22539	.|1.95;1.95	2.9|2.9	0.427|0.427	0.16489|0.16489	.|SEA (2);	.|.	.|.	.|.	.|.	T|T	0.39200|0.39200	0.1069|0.1069	M|M	0.81341|0.81341	2.54|2.54	.|.	.|.	.|.	.|B;D	.|0.64830	.|0.226;0.994	.|B;D	.|0.71656	.|0.139;0.974	T|T	0.45338|0.45338	-0.9268|-0.9268	4|8	.|0.66056	.|D	.|0.02	-0.5502|-0.5502	2.7579|2.7579	0.05298|0.05298	0.1637:0.0:0.5566:0.2797|0.1637:0.0:0.5566:0.2797	.|.	.|21121;13476	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	F|L	316|13476;117	.|ENSP00000381008:P13476L;ENSP00000370338:P117L	.|ENSP00000370338:P117L	L|P	-|-	1|2	0|0	MUC16|MUC16	8861557|8861557	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.029000|0.029000	0.11900|0.11900	0.119000|0.119000	0.15626|0.15626	0.545000|0.545000	0.28902|0.28902	0.305000|0.305000	0.20034|0.20034	CTC|CCT	MUC16	-	smart_SEA,pfscan_SEA	ENSG00000181143		0.408	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	59	0.00	0	G	NM_024690		9000557	9000557	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	109	44.16	87	SNP	0.001	A
PNPLA7	375775	genome.wustl.edu	37	9	140356760	140356760	+	Silent	SNP	C	C	T			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr9:140356760C>T	ENST00000277531.4	-	30	3627	c.3441G>A	c.(3439-3441)caG>caA	p.Q1147Q	NSMF_ENST00000437259.1_5'Flank|PNPLA7_ENST00000371457.1_Silent_p.Q753Q|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000371474.3_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000265663.7_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.Q1172Q	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1147					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCAGGCGCGTCTGAATCTCTG	0.667																																						dbGAP											0													63.0	63.0	63.0					9																	140356760		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3441G>A	9.37:g.140356760C>T			B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.Q1172	ENST00000277531.4	37	c.3516	CCDS7045.1	9																																																																																			PNPLA7	-	superfamily_Acyl_Trfase/lysoPLipase	ENSG00000130653		0.667	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1	11	0.00	0	C	NM_152286		140356760	140356760	-1	no_errors	ENST00000406427	ensembl	human	known	69_37n	silent	20	23.08	6	SNP	1.000	T
PSG7	5676	genome.wustl.edu	37	19	43430738	43430738	+	RNA	SNP	G	G	T			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr19:43430738G>T	ENST00000406070.2	-	0	936				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GACTGACCGGGAGGCTCTGAC	0.468																																						dbGAP											0													224.0	216.0	219.0					19																	43430738		2202	4297	6499	-	-	-			0					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430738G>T			Q15232	Silent	SNP	NULL	p.L280	ENST00000406070.2	37	c.840		19																																																																																			PSG7	-	NULL	ENSG00000221878		0.468	PSG7-001	KNOWN	basic	polymorphic_pseudogene	PSG7	HGNC	polymorphic_pseudogene	OTTHUMT00000321431.2	78	0.00	0	G	NM_001206650		43430738	43430738	-1	pseudogene	ENST00000406070	ensembl	human	known	69_37n	silent	217	22.22	62	SNP	0.019	T
RPTN	126638	genome.wustl.edu	37	1	152127447	152127447	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr1:152127447C>T	ENST00000316073.3	-	3	2192	c.2128G>A	c.(2128-2130)Ggc>Agc	p.G710S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	710	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTTTGATGGCCCTGCTCTTCC	0.567																																						dbGAP											0													331.0	269.0	288.0					1																	152127447		1568	3582	5150	-	-	-	SO:0001583	missense	0			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.2128G>A	1.37:g.152127447C>T	ENSP00000317895:p.Gly710Ser		B7ZBZ3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G710S	ENST00000316073.3	37	c.2128	CCDS41397.1	1	.	.	.	.	.	.	.	.	.	.	C	0.068	-1.209433	0.01568	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.11169	2.8	5.1	0.262	0.15597	.	.	.	.	.	T	0.01940	0.0061	L	0.41236	1.265	0.09310	N	1	P	0.43094	0.799	B	0.37650	0.255	T	0.36237	-0.9756	9	0.08179	T	0.78	3.7872	6.3989	0.21628	0.0:0.4119:0.0:0.5881	.	710	Q6XPR3	RPTN_HUMAN	S	710;365	ENSP00000317895:G710S	ENSP00000317895:G710S	G	-	1	0	RPTN	150394071	.	.	0.015000	0.15790	0.009000	0.06853	.	.	0.143000	0.18926	-0.366000	0.07423	GGC	RPTN	-	NULL	ENSG00000215853		0.567	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTN	HGNC	protein_coding	OTTHUMT00000333867.1	95	0.00	0	C	XM_371312		152127447	152127447	-1	no_errors	ENST00000316073	ensembl	human	known	69_37n	missense	884	20.82	233	SNP	0.001	T
RGS16	6004	genome.wustl.edu	37	1	182569531	182569531	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr1:182569531G>A	ENST00000367558.5	-	5	653	c.505C>T	c.(505-507)Cca>Tca	p.P169S		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	169	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						AGGAAGCGTGGGTAGGAGTCC	0.622																																						dbGAP											0													158.0	128.0	138.0					1																	182569531		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.505C>T	1.37:g.182569531G>A	ENSP00000356529:p.Pro169Ser		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.P169S	ENST00000367558.5	37	c.505	CCDS1348.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981624	0.74474	.	.	ENSG00000143333	ENST00000367558	T	0.02197	4.4	5.14	5.14	0.70334	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.055003	0.85682	D	0.000000	T	0.10208	0.0250	M	0.77406	2.37	0.80722	D	1	P	0.49307	0.922	P	0.53649	0.731	T	0.00536	-1.1683	10	0.66056	D	0.02	.	18.1986	0.89831	0.0:0.0:1.0:0.0	.	169	O15492	RGS16_HUMAN	S	169	ENSP00000356529:P169S	ENSP00000356529:P169S	P	-	1	0	RGS16	180836154	1.000000	0.71417	0.034000	0.17996	0.917000	0.54804	9.252000	0.95491	2.408000	0.81797	0.555000	0.69702	CCA	RGS16	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	ENSG00000143333		0.622	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS16	HGNC	protein_coding	OTTHUMT00000085188.1	32	0.00	0	G	NM_002928		182569531	182569531	-1	no_errors	ENST00000367558	ensembl	human	known	69_37n	missense	198	20.16	50	SNP	1.000	A
SAFB	6294	genome.wustl.edu	37	19	5641894	5641894	+	Silent	SNP	G	G	A			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr19:5641894G>A	ENST00000292123.5	+	4	590	c.483G>A	c.(481-483)tcG>tcA	p.S161S	SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000592224.1_Silent_p.S161S|SAFB_ENST00000588852.1_Silent_p.S161S|SAFB_ENST00000538656.1_Intron	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	161					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AGTCCCTGTCGGATAGTAGAG	0.478																																					Colon(88;338 1345 6184 8214 20897)	dbGAP											0													98.0	95.0	96.0					19																	5641894		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.483G>A	19.37:g.5641894G>A			A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Silent	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.S161	ENST00000292123.5	37	c.483	CCDS12142.1	19																																																																																			SAFB	-	NULL	ENSG00000160633		0.478	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	30	0.00	0	G			5641894	5641894	+1	no_errors	ENST00000588852	ensembl	human	known	69_37n	silent	36	33.33	18	SNP	0.947	A
SLC25A14	9016	genome.wustl.edu	37	X	129474313	129474313	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chrX:129474313G>A	ENST00000218197.5	+	1	288	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	SLC25A14_ENST00000545805.1_Missense_Mutation_p.V21M|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.V21M|SLC25A14_ENST00000339231.3_Missense_Mutation_p.V21M|SLC25A14_ENST00000543953.1_Intron	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	21					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AACGGCGGCCGTGATTGTAAG	0.488																																						dbGAP											0													79.0	84.0	82.0					X																	129474313		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.61G>A	X.37:g.129474313G>A	ENSP00000218197:p.Val21Met		D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.V21M	ENST00000218197.5	37	c.61	CCDS14623.1	X	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550746	0.65311	.	.	ENSG00000102078	ENST00000424447;ENST00000545805;ENST00000218197;ENST00000361980;ENST00000339231	T;D;D;D;T	0.82255	-1.24;-1.53;-1.51;-1.59;-1.42	4.31	4.31	0.51392	.	2.805880	0.01702	N	0.027242	D	0.83445	0.5256	N	0.08118	0	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.989	D;D;P	0.70016	0.967;0.951;0.894	T	0.75422	-0.3323	10	0.33940	T	0.23	-10.5053	11.0968	0.48150	0.0:0.0:1.0:0.0	.	21;21;21	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	M	21	ENSP00000402578:V21M;ENSP00000444642:V21M;ENSP00000218197:V21M;ENSP00000354455:V21M;ENSP00000342797:V21M	ENSP00000218197:V21M	V	+	1	0	SLC25A14	129301994	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.812000	0.55628	2.387000	0.81309	0.594000	0.82650	GTG	SLC25A14	-	NULL	ENSG00000102078		0.488	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A14	HGNC	protein_coding	OTTHUMT00000058253.1	58	0.00	0	G	NM_022810, NM_003951		129474313	129474313	+1	no_errors	ENST00000339231	ensembl	human	known	69_37n	missense	67	18.29	15	SNP	1.000	A
SPRY3	10251	genome.wustl.edu	37	X	155003723	155003723	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chrX:155003723C>T	ENST00000302805.2	+	2	621	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	64					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCTCTCCCCCGCAGTCTCAG	0.562																																						dbGAP											0													246.0	217.0	227.0					X																	155003723		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.190C>T	X.37:g.155003723C>T	ENSP00000302978:p.Arg64Cys		A8K0H8	Missense_Mutation	SNP	pfam_Sprouty	p.R64C	ENST00000302805.2	37	c.190	CCDS14769.4	X	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830549	0.32329	.	.	ENSG00000168939	ENST00000302805;ENST00000369437	T	0.57107	0.42	3.14	3.14	0.36123	.	0.238434	0.34676	N	0.003767	T	0.50137	0.1598	.	.	.	0.18873	N	0.999987	D;D	0.76494	0.999;0.999	P;B	0.47251	0.542;0.369	T	0.48422	-0.9037	9	0.59425	D	0.04	-21.2283	11.3539	0.49605	0.0:1.0:0.0:0.0	.	64;64	Q6ZUP3;O43610	.;SPY3_HUMAN	C	64	ENSP00000302978:R64C	ENSP00000302978:R64C	R	+	1	0	SPRY3	154656917	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	3.879000	0.56138	1.593000	0.50029	0.279000	0.19357	CGC	SPRY3	-	NULL	ENSG00000168939		0.562	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	HGNC	protein_coding	OTTHUMT00000058823.2	67	0.00	0	C	NM_005840		155003723	155003723	+1	no_errors	ENST00000302805	ensembl	human	known	69_37n	missense	170	46.71	149	SNP	0.997	T
TTC23L	153657	genome.wustl.edu	37	5	34863073	34863073	+	Silent	SNP	G	G	A			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr5:34863073G>A	ENST00000505624.1	+	5	553	c.450G>A	c.(448-450)acG>acA	p.T150T	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	150			T -> M (in dbSNP:rs34566695).					p.T150T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGGCAAATACGACCTCAAATA	0.512																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											114.0	112.0	113.0					5																	34863073		1986	4160	6146	-	-	-	SO:0001819	synonymous_variant	0				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.450G>A	5.37:g.34863073G>A			Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	NULL	p.D47N	ENST00000505624.1	37	c.139	CCDS54840.1	5																																																																																			TTC23L	-	NULL	ENSG00000205838		0.512	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	HGNC	protein_coding	OTTHUMT00000366819.1	40	0.00	0	G	NM_144725		34863073	34863073	+1	no_errors	ENST00000508722	ensembl	human	known	69_37n	missense	64	39.05	41	SNP	0.000	A
ZSCAN29	146050	genome.wustl.edu	37	15	43658586	43658586	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FJ-01A-11D-A13L-09	TCGA-BH-A1FJ-11B-42D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	dc62eafd-b5ad-42b4-9665-11ba6b22cff5	d6bd94cc-efd7-460d-aa7b-3e3d6a968e2a	g.chr15:43658586C>T	ENST00000396976.2	-	3	1078	c.944G>A	c.(943-945)gGc>gAc	p.G315D	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.G314D	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	315					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTGGGTGGCCGCTCTTGAC	0.572																																						dbGAP											0													78.0	84.0	82.0					15																	43658586		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.944G>A	15.37:g.43658586C>T	ENSP00000380174:p.Gly315Asp		B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G315D	ENST00000396976.2	37	c.944	CCDS10095.2	15	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248611	0.80024	.	.	ENSG00000140265	ENST00000396976	T	0.42513	0.97	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000012	T	0.72930	0.3522	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;D;D	0.97110	0.998;0.921;1.0	T	0.80913	-0.1170	10	0.87932	D	0	-10.8059	15.5058	0.75739	0.0:1.0:0.0:0.0	.	314;315;315	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	D	315	ENSP00000380174:G315D	ENSP00000380174:G315D	G	-	2	0	ZSCAN29	41445878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.899000	0.39818	2.506000	0.84524	0.563000	0.77884	GGC	ZSCAN29	-	NULL	ENSG00000140265		0.572	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1	42	0.00	0	C	NM_152455		43658586	43658586	-1	no_errors	ENST00000396976	ensembl	human	known	69_37n	missense	47	45.35	39	SNP	1.000	T
