#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
ARAP2	116984	genome.wustl.edu	37	4	36212227	36212227	+	Missense_Mutation	SNP	A	A	T			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr4:36212227A>T	ENST00000303965.4	-	6	1761	c.1272T>A	c.(1270-1272)agT>agA	p.S424R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	424					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTTCTTAAACTCTGAAAGC	0.363																																						dbGAP											0													113.0	119.0	117.0					4																	36212227		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1272T>A	4.37:g.36212227A>T	ENSP00000302895:p.Ser424Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S424R	ENST00000303965.4	37	c.1272	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663147	0.67700	.	.	ENSG00000047365	ENST00000303965	T	0.09350	2.99	5.6	1.8	0.24995	.	0.176932	0.49305	D	0.000160	T	0.21921	0.0528	M	0.64997	1.995	0.27188	N	0.960494	D;D	0.76494	0.996;0.999	P;D	0.66196	0.852;0.942	T	0.05451	-1.0884	10	0.31617	T	0.26	.	7.7035	0.28636	0.7504:0.0:0.2496:0.0	.	354;424	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	R	424	ENSP00000302895:S424R	ENSP00000302895:S424R	S	-	3	2	ARAP2	35888622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.998000	0.29744	0.077000	0.16863	0.477000	0.44152	AGT	ARAP2	-	NULL	ENSG00000047365		0.363	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	373	0.00	0	A	NM_015230		36212227	36212227	-1	no_errors	ENST00000303965	ensembl	human	known	69_37n	missense	471	17.34	99	SNP	1.000	T
ATP6V0A4	50617	genome.wustl.edu	37	7	138394499	138394499	+	Missense_Mutation	SNP	G	G	C	rs560499613		TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr7:138394499G>C	ENST00000310018.2	-	21	2581	c.2299C>G	c.(2299-2301)Ctt>Gtt	p.L767V	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L767V|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L767V	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	767					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CGCGTCTGAAGGCCGCTGTTC	0.468																																						dbGAP											0													89.0	91.0	90.0					7																	138394499		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2299C>G	7.37:g.138394499G>C	ENSP00000308122:p.Leu767Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.L767V	ENST00000310018.2	37	c.2299	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755671	0.49362	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.85861	-2.04;-2.04;-2.04	5.71	3.9	0.45041	.	0.090906	0.41605	D	0.000853	D	0.89663	0.6780	M	0.77616	2.38	0.52099	D	0.999949	D	0.63046	0.992	P	0.58077	0.832	D	0.90260	0.4300	10	0.62326	D	0.03	-24.4072	11.5557	0.50745	0.1985:0.0:0.8015:0.0	.	767	Q9HBG4	VPP4_HUMAN	V	767	ENSP00000308122:L767V;ENSP00000376774:L767V;ENSP00000253856:L767V	ENSP00000308122:L767V	L	-	1	0	ATP6V0A4	138045039	1.000000	0.71417	0.975000	0.42487	0.213000	0.24496	3.549000	0.53681	1.419000	0.47118	0.655000	0.94253	CTT	ATP6V0A4	-	pfam_ATPase_V0/A0_a	ENSG00000105929		0.468	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	245	0.00	0	G	NM_020632		138394499	138394499	-1	no_errors	ENST00000310018	ensembl	human	known	69_37n	missense	345	20.09	87	SNP	1.000	C
ATXN3L	92552	genome.wustl.edu	37	X	13337012	13337012	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chrX:13337012T>A	ENST00000380622.2	-	1	1506	c.1042A>T	c.(1042-1044)Aat>Tat	p.N348Y	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	348					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATTTTCAAATTCTTTCTCATA	0.353																																						dbGAP											0													114.0	103.0	107.0					X																	13337012		1568	3582	5150	-	-	-	SO:0001583	missense	0				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.1042A>T	X.37:g.13337012T>A	ENSP00000369996:p.Asn348Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNY8	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.N348Y	ENST00000380622.2	37	c.1042	CCDS48080.1	X	.	.	.	.	.	.	.	.	.	.	T	8.989	0.977231	0.18812	.	.	ENSG00000123594	ENST00000380622	T	0.19938	2.11	0.793	0.793	0.18632	.	0.482852	0.21144	N	0.079431	T	0.14098	0.0341	N	0.19112	0.55	0.09310	N	1	B	0.22800	0.075	B	0.33890	0.172	T	0.27739	-1.0065	9	0.72032	D	0.01	.	.	.	.	.	348	Q9H3M9	ATX3L_HUMAN	Y	348	ENSP00000369996:N348Y	ENSP00000369996:N348Y	N	-	1	0	ATXN3L	13246933	0.709000	0.27886	0.005000	0.12908	0.002000	0.02628	0.275000	0.18698	0.547000	0.28938	0.339000	0.21740	AAT	ATXN3L	-	NULL	ENSG00000123594		0.353	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	366	0.00	0	T	NM_001135995		13337012	13337012	-1	no_errors	ENST00000380622	ensembl	human	known	69_37n	missense	425	18.74	98	SNP	0.006	A
B3GAT2	135152	genome.wustl.edu	37	6	71603840	71603840	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr6:71603840C>T	ENST00000230053.6	-	2	1335	c.727G>A	c.(727-729)Gac>Aac	p.D243N		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	243	Interaction with galactose moiety of substrate glycoprotein. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CCTGCCATGTCGATGGCAAAA	0.527																																						dbGAP											0													109.0	81.0	91.0					6																	71603840		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.727G>A	6.37:g.71603840C>T	ENSP00000230053:p.Asp243Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.D243N	ENST00000230053.6	37	c.727	CCDS4974.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.741566	0.96873	.	.	ENSG00000112309	ENST00000230053	T	0.73575	-0.76	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.87091	0.6091	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.977;1.0	D	0.87550	0.2464	10	0.66056	D	0.02	-7.7921	20.0864	0.97801	0.0:1.0:0.0:0.0	.	171;243	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	N	243	ENSP00000230053:D243N	ENSP00000230053:D243N	D	-	1	0	B3GAT2	71660561	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.818000	0.86416	2.758000	0.94735	0.555000	0.69702	GAC	B3GAT2	-	pfam_Glyco_trans_43	ENSG00000112309		0.527	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GAT2	HGNC	protein_coding	OTTHUMT00000041150.2	142	0.00	0	C	NM_080742		71603840	71603840	-1	no_errors	ENST00000230053	ensembl	human	known	69_37n	missense	123	18.54	28	SNP	1.000	T
BCL7C	9274	genome.wustl.edu	37	16	30899222	30899223	+	Frame_Shift_Ins	INS	-	-	G	rs150838242		TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr16:30899222_30899223insG	ENST00000215115.4	-	6	1632_1633	c.617_618insC	c.(616-618)ccafs	p.P206fs	MIR4519_ENST00000565573.1_RNA|AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000570025.1_RNA|BCL7C_ENST00000380317.4_Intron|MIR4519_ENST00000564901.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	206	Pro-rich.				apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			TGCGCTTGAGTGGGGGGGCACC	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.618dupC	16.37:g.30899229_30899229dupG	ENSP00000215115:p.Pro206fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O43770|Q6PD89	Frame_Shift_Ins	INS	pfam_BCL7	p.L207fs	ENST00000215115.4	37	c.618_617	CCDS10693.1	16																																																																																			BCL7C	-	NULL	ENSG00000099385		0.619	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL7C	HGNC	protein_coding	OTTHUMT00000255547.3	28	0.00	0	-	NM_004765		30899222	30899223	-1	no_errors	ENST00000215115	ensembl	human	known	69_37n	frame_shift_ins	43	14.00	7	INS	1.000:1.000	G
CFH	3075	genome.wustl.edu	37	1	196684769	196684769	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr1:196684769C>A	ENST00000367429.4	+	11	1806	c.1566C>A	c.(1564-1566)gaC>gaA	p.D522E		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	522	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ctaaaaatgacttcacatggt	0.343																																						dbGAP											0													200.0	193.0	195.0					1																	196684769		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1566C>A	1.37:g.196684769C>A	ENSP00000356399:p.Asp522Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D522E	ENST00000367429.4	37	c.1566	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061121	0.36373	.	.	ENSG00000000971	ENST00000367429	T	0.75938	-0.98	5.65	-8.41	0.00961	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.54615	0.1869	L	0.54323	1.7	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.51803	-0.8659	9	0.02654	T	1	.	4.6482	0.12582	0.4461:0.3012:0.0:0.2526	.	522	P08603	CFAH_HUMAN	E	522	ENSP00000356399:D522E	ENSP00000356399:D522E	D	+	3	2	CFH	194951392	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.345000	0.02637	-1.334000	0.02244	-0.181000	0.13052	GAC	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP	ENSG00000000971		0.343	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	193	0.00	0	C	NM_000186		196684769	196684769	+1	no_errors	ENST00000367429	ensembl	human	known	69_37n	missense	314	16.89	64	SNP	0.000	A
CRHR1	1394	genome.wustl.edu	37	17	43911164	43911165	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr17:43911164_43911165insT	ENST00000398285.3	+	12	1101_1102	c.1101_1102insT	c.(1102-1104)gtcfs	p.V368fs	CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000293493.7_Frame_Shift_Ins_p.V164fs|CRHR1_ENST00000314537.5_Frame_Shift_Ins_p.V339fs|CRHR1_ENST00000352855.5_Frame_Shift_Ins_p.V299fs|CRHR1_ENST00000577353.1_Frame_Shift_Ins_p.V339fs	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	368					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGGAGGATGAGGTCTCCCGGGT	0.599																																					Ovarian(110;57 1568 10207 38216 49865)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		Exception_encountered	17.37:g.43911164_43911165insT	ENSP00000381333:p.Val368fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIE9|Q13008|Q4QRJ1|Q9UK64	Frame_Shift_Ins	INS	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt	p.V367fs	ENST00000398285.3	37	c.1101_1102	CCDS45712.1	17																																																																																			CRHR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt	ENSG00000120088		0.599	CRHR1-001	KNOWN	basic|CCDS	protein_coding	CRHR1	HGNC	protein_coding	OTTHUMT00000441241.3	29	0.00	0	-			43911164	43911165	+1	no_errors	ENST00000398285	ensembl	human	known	69_37n	frame_shift_ins	13	67.50	27	INS	1.000:1.000	T
CRHR1	1394	genome.wustl.edu	37	17	43911167	43911168	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr17:43911167_43911168insA	ENST00000398285.3	+	12	1104_1105	c.1104_1105insA	c.(1105-1107)tccfs	p.S369fs	CRHR1_ENST00000339069.5_Intron|CRHR1_ENST00000293493.7_Frame_Shift_Ins_p.S165fs|CRHR1_ENST00000314537.5_Frame_Shift_Ins_p.S340fs|CRHR1_ENST00000352855.5_Frame_Shift_Ins_p.S300fs|CRHR1_ENST00000577353.1_Frame_Shift_Ins_p.S340fs	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	369					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		AGGATGAGGTCTCCCGGGTCGT	0.594																																					Ovarian(110;57 1568 10207 38216 49865)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		Exception_encountered	17.37:g.43911167_43911168insA	ENSP00000381333:p.Ser369fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIE9|Q13008|Q4QRJ1|Q9UK64	Frame_Shift_Ins	INS	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt	p.S368fs	ENST00000398285.3	37	c.1104_1105	CCDS45712.1	17																																																																																			CRHR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt	ENSG00000120088		0.594	CRHR1-001	KNOWN	basic|CCDS	protein_coding	CRHR1	HGNC	protein_coding	OTTHUMT00000441241.3	31	0.00	0	-			43911167	43911168	+1	no_errors	ENST00000398285	ensembl	human	known	69_37n	frame_shift_ins	15	64.29	27	INS	1.000:1.000	A
CXADR	1525	genome.wustl.edu	37	21	18931412	18931412	+	Silent	SNP	G	G	A			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr21:18931412G>A	ENST00000284878.7	+	4	1282	c.534G>A	c.(532-534)ttG>ttA	p.L178L	CXADR_ENST00000400165.1_Intron|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400166.1_Silent_p.L178L|CXADR_ENST00000400169.1_Silent_p.L178L|CXADR_ENST00000306618.10_Silent_p.L178L	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	178	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|AV node cell to bundle of His cell communication (GO:0086067)|blood coagulation (GO:0007596)|cardiac muscle fiber development (GO:0048739)|cell-cell junction organization (GO:0045216)|defense response to virus (GO:0051607)|epithelial structure maintenance (GO:0010669)|gamma-delta T cell activation (GO:0046629)|germ cell migration (GO:0008354)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|homotypic cell-cell adhesion (GO:0034109)|leukocyte migration (GO:0050900)|mitochondrion organization (GO:0007005)|neutrophil chemotaxis (GO:0030593)|regulation of immune response (GO:0050776)|transepithelial transport (GO:0070633)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|adherens junction (GO:0005912)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|filopodium (GO:0030175)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|cell adhesion molecule binding (GO:0050839)|connexin binding (GO:0071253)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|virus receptor activity (GO:0001618)			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GGCAAAAATTGTCTGACTCAC	0.383																																						dbGAP											0													80.0	72.0	75.0					21																	18931412		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y07593	CCDS33519.1, CCDS56204.1, CCDS56205.1, CCDS56206.1, CCDS56207.1	21q21.1	2013-01-29			ENSG00000154639	ENSG00000154639		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2559	protein-coding gene	gene with protein product		602621				9036860, 9096397	Standard	NM_001338		Approved	CAR	uc002yki.3	P78310	OTTHUMG00000074508	ENST00000284878.7:c.534G>A	21.37:g.18931412G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8V8|B7WPI3|D3YHP0|O00694|Q8WWT6|Q8WWT7|Q8WWT8|Q9UKV4	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L178	ENST00000284878.7	37	c.534	CCDS33519.1	21																																																																																			CXADR	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154639		0.383	CXADR-001	KNOWN	basic|CCDS	protein_coding	CXADR	HGNC	protein_coding	OTTHUMT00000158209.1	279	0.00	0	G			18931412	18931412	+1	no_errors	ENST00000284878	ensembl	human	known	69_37n	silent	272	18.32	61	SNP	0.762	A
CXorf58	254158	genome.wustl.edu	37	X	23934438	23934438	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chrX:23934438C>A	ENST00000379211.3	+	5	965	c.416C>A	c.(415-417)tCa>tAa	p.S139*		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	139										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTAATGCCGTCAAGTAAGGTG	0.303																																						dbGAP											0													109.0	96.0	100.0					X																	23934438		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.416C>A	X.37:g.23934438C>A	ENSP00000368511:p.Ser139*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.S139*	ENST00000379211.3	37	c.416	CCDS14209.1	X	.	.	.	.	.	.	.	.	.	.	c	10.27	1.303884	0.23736	.	.	ENSG00000165182	ENST00000379211	.	.	.	5.0	4.11	0.48088	.	0.000000	0.45361	D	0.000364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1455	11.7058	0.51597	0.0:0.8253:0.1747:0.0	.	.	.	.	X	139	.	ENSP00000368511:S139X	S	+	2	0	CXorf58	23844359	0.998000	0.40836	0.214000	0.23707	0.169000	0.22640	2.656000	0.46716	0.871000	0.35750	0.411000	0.27672	TCA	CXorf58	-	NULL	ENSG00000165182		0.303	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf58	HGNC	protein_coding	OTTHUMT00000056071.1	71	0.00	0	C	NM_152761		23934438	23934438	+1	no_errors	ENST00000379211	ensembl	human	known	69_37n	nonsense	76	25.49	26	SNP	0.803	A
DDX28	55794	genome.wustl.edu	37	16	68055678	68055679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr16:68055678_68055679insG	ENST00000332395.5	-	1	2091_2092	c.1427_1428insC	c.(1426-1428)ccafs	p.P476fs	DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	476	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.P476L(1)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CTTGCAGCGTTGGGGGGAAATC	0.564																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"""DEAD-boxes"""	17330	protein-coding gene	gene with protein product		607618	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"""			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1428dupC	16.37:g.68055684_68055684dupG	ENSP00000332340:p.Pro476fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T477fs	ENST00000332395.5	37	c.1428_1427	CCDS10858.1	16																																																																																			DDX28	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000182810		0.564	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	HGNC	protein_coding	OTTHUMT00000268883.1	62	0.00	0	-	NM_018380		68055678	68055679	-1	no_errors	ENST00000332395	ensembl	human	known	69_37n	frame_shift_ins	23	17.86	5	INS	0.173:0.181	G
DNTT	1791	genome.wustl.edu	37	10	98064304	98064304	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr10:98064304G>A	ENST00000371174.2	+	1	152	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000419175.1_Missense_Mutation_p.R17Q			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	17					DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAGAGACCCCGGCAGACGGGT	0.567																																						dbGAP											0													51.0	57.0	55.0					10																	98064304		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.50G>A	10.37:g.98064304G>A	ENSP00000360216:p.Arg17Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.R17Q	ENST00000371174.2	37	c.50	CCDS7447.1	10	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087945	0.55968	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.12774	2.65;2.65	5.76	4.67	0.58626	.	0.298040	0.34268	N	0.004114	T	0.24509	0.0594	M	0.65975	2.015	0.09310	N	0.999998	D;D	0.65815	0.995;0.992	P;P	0.54312	0.748;0.564	T	0.08638	-1.0712	10	0.56958	D	0.05	0.0129	8.7975	0.34887	0.1737:0.0:0.8263:0.0	.	17;17	P04053-2;P04053	.;TDT_HUMAN	Q	17	ENSP00000401169:R17Q;ENSP00000360216:R17Q	ENSP00000360216:R17Q	R	+	2	0	DNTT	98054294	0.993000	0.37304	0.777000	0.31699	0.239000	0.25481	2.433000	0.44793	2.726000	0.93360	0.655000	0.94253	CGG	DNTT	-	pirsf_DNA_nucleotidylexotransferase	ENSG00000107447		0.567	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNTT	HGNC	protein_coding	OTTHUMT00000049607.1	93	0.00	0	G	NM_004088		98064304	98064304	+1	no_errors	ENST00000371174	ensembl	human	known	69_37n	missense	91	24.17	29	SNP	0.144	A
EIF3B	8662	genome.wustl.edu	37	7	2409146	2409146	+	Silent	SNP	C	C	T			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr7:2409146C>T	ENST00000360876.4	+	10	1499	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	EIF3B_ENST00000397011.2_Silent_p.F481F	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TAATCGCCTTCTGGGTGCCTG	0.463																																						dbGAP											0													205.0	213.0	210.0					7																	2409146		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1443C>T	7.37:g.2409146C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom	p.F481	ENST00000360876.4	37	c.1443	CCDS5332.1	7																																																																																			EIF3B	-	pirsf_eIF3b	ENSG00000106263		0.463	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	EIF3B	HGNC	protein_coding	OTTHUMT00000207006.1	165	0.00	0	C			2409146	2409146	+1	no_errors	ENST00000360876	ensembl	human	known	69_37n	silent	354	27.79	137	SNP	0.993	T
DPY19L2P2	349152	genome.wustl.edu	37	7	102875162	102875162	+	RNA	SNP	T	T	C			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr7:102875162T>C	ENST00000312132.4	-	0	2877							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACATGGGAAATAATGATGCTA	0.264																																						dbGAP											0																																										-	-	-			0			AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102875162T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N9V4|Q8ND62	RNA	SNP	-	NULL	ENST00000312132.4	37	NULL		7																																																																																			DPY19L2P2	-	-	ENSG00000170629		0.264	DPY19L2P2-002	KNOWN	basic	processed_transcript	DPY19L2P2	HGNC	pseudogene	OTTHUMT00000347877.1	19	0.00	0	T	NM_182634		102875162	102875162	-1	no_errors	ENST00000312132	ensembl	human	known	69_37n	rna	22	21.43	6	SNP	1.000	C
EXOC3	11336	genome.wustl.edu	37	5	457086	457087	+	In_Frame_Ins	INS	-	-	AGG			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr5:457086_457087insAGG	ENST00000512944.1	+	5	1318_1319	c.1129_1130insAGG	c.(1129-1131)tct>tAGGct	p.377_377S>*A	EXOC3_ENST00000315013.5_In_Frame_Ins_p.377_377S>*A	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	388					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACACGTGGTCTCTGAGCTGCTT	0.569																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	Exception_encountered	5.37:g.457086_457087insAGG	ENSP00000425587:p.Ser377delins*Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	In_Frame_Ins	INS	pfam_Sec6	p.SELL377in_frame_ins*	ENST00000512944.1	37	c.1129_1130	CCDS54830.1	5																																																																																			EXOC3	-	pfam_Sec6	ENSG00000180104		0.569	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3	HGNC	protein_coding	OTTHUMT00000367882.1	14	0.00	0	-	NM_007277		457086	457087	+1	no_errors	ENST00000315013	ensembl	human	known	69_37n	in_frame_ins	19	38.71	12	INS	1.000:1.000	AGG
FAM47C	442444	genome.wustl.edu	37	X	37027582	37027582	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chrX:37027582C>T	ENST00000358047.3	+	1	1151	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	367										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCCTCTCCGCCAGCTGCC	0.637																																						dbGAP											0													65.0	64.0	64.0					X																	37027582		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1099C>T	X.37:g.37027582C>T	ENSP00000367913:p.Arg367Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU46	Missense_Mutation	SNP	NULL	p.R367C	ENST00000358047.3	37	c.1099	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	t	9.472	1.095968	0.20552	.	.	ENSG00000198173	ENST00000358047	T	0.12255	2.7	0.15	0.15	0.14883	.	.	.	.	.	T	0.13415	0.0325	N	0.13235	0.315	0.09310	N	1	D	0.76494	0.999	P	0.61201	0.885	T	0.16424	-1.0403	9	0.59425	D	0.04	.	2.6724	0.05071	0.0:0.5238:0.0:0.4762	.	367	Q5HY64	FA47C_HUMAN	C	367	ENSP00000367913:R367C	ENSP00000367913:R367C	R	+	1	0	FAM47C	36937503	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-0.463000	0.06696	0.181000	0.19994	0.183000	0.17082	CGC	FAM47C	-	NULL	ENSG00000198173		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	237	0.00	0	C	NM_001013736		37027582	37027582	+1	no_errors	ENST00000358047	ensembl	human	known	69_37n	missense	233	20.48	60	SNP	0.002	T
FGF7	2252	genome.wustl.edu	37	15	49716681	49716681	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr15:49716681G>C	ENST00000267843.4	+	2	798	c.187G>C	c.(187-189)Gat>Cat	p.D63H	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560270.1_Missense_Mutation_p.D63H	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	63					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		GGAAGGAGGGGATATAAGAGT	0.428																																						dbGAP											0													111.0	107.0	108.0					15																	49716681		2196	4295	6491	-	-	-	SO:0001583	missense	0			M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.187G>C	15.37:g.49716681G>C	ENSP00000267843:p.Asp63His	Somatic		WXS	Illumina GAIIx	Phase_IV	H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.D63H	ENST00000267843.4	37	c.187	CCDS10131.1	15	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654190	0.67472	.	.	ENSG00000140285	ENST00000267843	T	0.34859	1.34	5.7	5.7	0.88788	.	0.313312	0.33631	N	0.004710	T	0.51329	0.1668	.	.	.	0.58432	D	0.999996	D	0.76494	0.999	D	0.71656	0.974	T	0.32534	-0.9903	9	0.17369	T	0.5	.	14.0475	0.64714	0.0719:0.0:0.9281:0.0	.	63	P21781	FGF7_HUMAN	H	63	ENSP00000267843:D63H	ENSP00000267843:D63H	D	+	1	0	FGF7	47503973	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.421000	0.80204	2.703000	0.92315	0.655000	0.94253	GAT	FGF7	-	superfamily_Cytokine_IL1-like,smart_IL1_HBGF	ENSG00000140285		0.428	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF7	HGNC	protein_coding	OTTHUMT00000254374.3	272	0.00	0	G	NM_002009		49716681	49716681	+1	no_errors	ENST00000267843	ensembl	human	known	69_37n	missense	293	20.16	74	SNP	1.000	C
GALNT6	11226	genome.wustl.edu	37	12	51758021	51758021	+	Silent	SNP	G	G	A			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr12:51758021G>A	ENST00000543196.2	-	5	1138	c.933C>T	c.(931-933)ccC>ccT	p.P311P	GALNT6_ENST00000356317.3_Silent_p.P311P			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	311					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCTCTGGACGGGCTTGGCGA	0.577																																						dbGAP											0													97.0	90.0	92.0					12																	51758021		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.933C>T	12.37:g.51758021G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P311	ENST00000543196.2	37	c.933	CCDS8813.1	12																																																																																			GALNT6	-	pfam_Glyco_trans_2	ENSG00000139629		0.577	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT6	HGNC	protein_coding	OTTHUMT00000469735.1	102	0.00	0	G	NM_007210		51758021	51758021	-1	no_errors	ENST00000356317	ensembl	human	known	69_37n	silent	49	40.24	33	SNP	0.000	A
GANC	2595	genome.wustl.edu	37	15	42602936	42602936	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr15:42602936A>G	ENST00000318010.8	+	10	1189	c.949A>G	c.(949-951)Aga>Gga	p.R317G	GANC_ENST00000566442.1_Missense_Mutation_p.R317G	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	317					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	ACAAAAGGTCAGATCTCGCAC	0.438																																						dbGAP											0													155.0	130.0	139.0					15																	42602936		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.949A>G	15.37:g.42602936A>G	ENSP00000326227:p.Arg317Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.R317G	ENST00000318010.8	37	c.949	CCDS10084.1	15	.	.	.	.	.	.	.	.	.	.	A	9.892	1.204496	0.22205	.	.	ENSG00000214013	ENST00000318010	D	0.86694	-2.16	6.0	3.72	0.42706	Glycoside hydrolase-type carbohydrate-binding (1);	1.550660	0.02815	N	0.124795	T	0.78065	0.4225	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.62105	-0.6924	10	0.22109	T	0.4	-0.1284	5.2334	0.15434	0.6803:0.0:0.1941:0.1256	.	317;317	Q8TET4;Q2M2A3	GANC_HUMAN;.	G	317	ENSP00000326227:R317G	ENSP00000326227:R317G	R	+	1	2	GANC	40390228	0.021000	0.18746	0.433000	0.26760	0.875000	0.50365	2.186000	0.42593	0.527000	0.28560	0.519000	0.50382	AGA	GANC	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000214013		0.438	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	HGNC	protein_coding	OTTHUMT00000252887.2	321	0.31	1	A	NM_198141		42602936	42602936	+1	no_errors	ENST00000318010	ensembl	human	known	69_37n	missense	352	18.71	81	SNP	0.073	G
KBTBD4	55709	genome.wustl.edu	37	11	47599398	47599398	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr11:47599398C>T	ENST00000526005.1	-	2	307	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	KBTBD4_ENST00000395288.2_Missense_Mutation_p.E52K|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000534716.2_5'Flank|NDUFS3_ENST00000529276.1_5'Flank|NDUFS3_ENST00000263774.4_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.E68K|NDUFS3_ENST00000534208.1_5'Flank|NDUFS3_ENST00000528192.1_5'Flank|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000450908.1_3'UTR|KBTBD4_ENST00000533290.1_Missense_Mutation_p.E77K|KBTBD4_ENST00000525720.1_Missense_Mutation_p.E101K			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	52	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TCCCGGCCTTCCACCGAAATG	0.537																																						dbGAP											0													66.0	63.0	64.0					11																	47599398		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.154G>A	11.37:g.47599398C>T	ENSP00000433340:p.Glu52Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.E68K	ENST00000526005.1	37	c.202	CCDS7940.1	11	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642875	0.87859	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	T;T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.13	5.13	0.70059	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.047607	0.85682	D	0.000000	T	0.69566	0.3125	L	0.51853	1.615	0.58432	D	0.999998	P;P;P	0.45348	0.728;0.856;0.77	B;B;B	0.42245	0.156;0.381;0.242	T	0.74402	-0.3677	10	0.62326	D	0.03	-15.0222	18.9331	0.92574	0.0:1.0:0.0:0.0	.	68;52;77	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	K	52;77;52;68;68;101;52;52;52;77	ENSP00000433340:E52K;ENSP00000436713:E77K;ENSP00000378703:E52K;ENSP00000415106:E68K;ENSP00000434477:E101K;ENSP00000433404:E52K;ENSP00000433653:E52K;ENSP00000435651:E52K;ENSP00000433124:E77K	ENSP00000352971:E68K	E	-	1	0	KBTBD4	47555974	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.382000	0.79729	2.532000	0.85374	0.561000	0.74099	GAA	KBTBD4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000123444		0.537	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KBTBD4	HGNC	protein_coding	OTTHUMT00000391763.1	43	0.00	0	C	NM_016506		47599398	47599398	-1	no_errors	ENST00000430070	ensembl	human	known	69_37n	missense	41	75.44	301	SNP	1.000	T
KLF4	9314	genome.wustl.edu	37	9	110249348	110249348	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr9:110249348T>G	ENST00000374672.4	-	4	1698	c.1225A>C	c.(1225-1227)Aag>Cag	p.K409Q		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	443	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.K400Q(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TGGGAACTCTTTGTGTAGGTT	0.597																																						dbGAP											1	Substitution - Missense(1)	pancreas(1)											292.0	261.0	272.0					9																	110249348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1225A>C	9.37:g.110249348T>G	ENSP00000363804:p.Lys409Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K409Q	ENST00000374672.4	37	c.1225	CCDS6770.2	9	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578042	0.86645	.	.	ENSG00000136826	ENST00000374672	T	0.36157	1.27	5.33	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.554792	0.15210	N	0.274523	T	0.58637	0.2136	M	0.89601	3.045	0.58432	D	0.999997	D;P	0.54397	0.966;0.89	P;P	0.54346	0.543;0.749	T	0.63804	-0.6554	10	0.87932	D	0	.	10.7368	0.46130	0.0:0.0756:0.0:0.9244	.	443;409	O43474;O43474-1	KLF4_HUMAN;.	Q	409	ENSP00000363804:K409Q	ENSP00000363804:K409Q	K	-	1	0	KLF4	109289169	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	8.005000	0.88553	0.876000	0.35872	-0.250000	0.11733	AAG	KLF4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000136826		0.597	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF4	HGNC	protein_coding	OTTHUMT00000053556.2	70	0.00	0	T	NM_004235		110249348	110249348	-1	no_errors	ENST00000374672	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	1.000	G
LYVE1	10894	genome.wustl.edu	37	11	10590003	10590003	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr11:10590003C>T	ENST00000256178.3	-	1	235	c.77G>A	c.(76-78)cGt>cAt	p.R26H	MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000529598.1_Missense_Mutation_p.R26H|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_Intron	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	26					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACCTTCTGCACGCAAAGAGCC	0.537																																						dbGAP											0													83.0	71.0	75.0					11																	10590003		2201	4294	6495	-	-	-	SO:0001583	missense	0			AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"""extracellular link domain containing 1"""	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.77G>A	11.37:g.10590003C>T	ENSP00000256178:p.Arg26His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC18|Q9UNF4	Missense_Mutation	SNP	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link	p.R26H	ENST00000256178.3	37	c.77	CCDS7804.1	11	.	.	.	.	.	.	.	.	.	.	C	7.369	0.626521	0.14257	.	.	ENSG00000133800	ENST00000256178;ENST00000529598	T;T	0.33438	3.24;1.41	5.55	-5.12	0.02893	.	0.729939	0.12753	N	0.442043	T	0.12220	0.0297	N	0.22421	0.69	0.09310	N	1	B;B	0.15930	0.015;0.002	B;B	0.10450	0.005;0.0	T	0.30937	-0.9961	10	0.13853	T	0.58	1.4348	1.9966	0.03458	0.1924:0.3226:0.0948:0.3902	.	26;26	F2Z296;Q9Y5Y7	.;LYVE1_HUMAN	H	26	ENSP00000256178:R26H;ENSP00000436016:R26H	ENSP00000256178:R26H	R	-	2	0	LYVE1	10546579	0.000000	0.05858	0.000000	0.03702	0.605000	0.37080	-2.543000	0.00934	-0.803000	0.04415	-0.961000	0.02630	CGT	LYVE1	-	NULL	ENSG00000133800		0.537	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYVE1	HGNC	protein_coding	OTTHUMT00000385893.1	83	0.00	0	C	NM_016164		10590003	10590003	-1	no_errors	ENST00000256178	ensembl	human	known	69_37n	missense	77	19.79	19	SNP	0.000	T
MADD	8567	genome.wustl.edu	37	11	47304060	47304060	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr11:47304060C>T	ENST00000311027.5	+	9	1763	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	MADD_ENST00000402799.1_Missense_Mutation_p.P533L|MADD_ENST00000406482.1_Missense_Mutation_p.P533L|MADD_ENST00000342922.4_Missense_Mutation_p.P533L|MADD_ENST00000407859.3_Missense_Mutation_p.P533L|MADD_ENST00000349238.3_Missense_Mutation_p.P533L|MADD_ENST00000395336.3_Missense_Mutation_p.P533L|MADD_ENST00000395344.3_Missense_Mutation_p.P533L|MADD_ENST00000402192.2_Missense_Mutation_p.P533L|MADD_ENST00000489415.1_3'UTR	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCCTCACGTCCCCGGCAGACT	0.552																																						dbGAP											0													80.0	75.0	77.0					11																	47304060		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1598C>T	11.37:g.47304060C>T	ENSP00000310933:p.Pro533Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P533L	ENST00000311027.5	37	c.1598	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.577673	0.96565	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.77	5.77	0.91146	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.995;0.995;0.995;0.989;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.977;1.0;0.941;0.941;0.941;0.941;0.999;0.99;0.99	T	0.69101	-0.5234	10	0.87932	D	0	-15.464	20.3473	0.98799	0.0:1.0:0.0:0.0	.	533;533;533;533;533;533;533;533;533;533	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	L	533	ENSP00000343902:P533L;ENSP00000385585:P533L;ENSP00000384435:P533L;ENSP00000304505:P533L;ENSP00000310933:P533L;ENSP00000384204:P533L;ENSP00000378753:P533L;ENSP00000378745:P533L;ENSP00000384287:P533L	ENSP00000310933:P533L	P	+	2	0	MADD	47260636	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.419000	0.80179	2.884000	0.98904	0.655000	0.94253	CCC	MADD	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000110514		0.552	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	97	0.00	0	C			47304060	47304060	+1	no_errors	ENST00000311027	ensembl	human	known	69_37n	missense	187	17.26	39	SNP	1.000	T
MAU2	23383	genome.wustl.edu	37	19	19454747	19454748	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr19:19454747_19454748insCC	ENST00000392313.6	+	10	1254_1255	c.1075_1076insCC	c.(1075-1077)gagfs	p.E359fs	MAU2_ENST00000262815.8_Frame_Shift_Ins_p.E359fs	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	359					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GGCGCTGCAGGAGGTAAGGCTG	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	Exception_encountered	19.37:g.19454747_19454748insCC	ENSP00000376127:p.Glu359fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Frame_Shift_Ins	INS	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.E359fs	ENST00000392313.6	37	c.1075_1076	CCDS32969.2	19																																																																																			MAU2	-	pfam_Cohesin_loading_factor	ENSG00000129933		0.594	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	19	0.00	0	-	NM_015329		19454747	19454748	+1	no_errors	ENST00000262815	ensembl	human	known	69_37n	frame_shift_ins	10	23.08	3	INS	1.000:1.000	CC
MICALL1	85377	genome.wustl.edu	37	22	38327919	38327919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr22:38327919delC	ENST00000215957.6	+	10	2121	c.1995delC	c.(1993-1995)ggcfs	p.G665fs	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	665	Pro-rich.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CTGGACACGGCTTTCCACTCA	0.622																																						dbGAP											0													69.0	73.0	71.0					22																	38327919		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1995delC	22.37:g.38327919delC	ENSP00000215957:p.Gly665fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Frame_Shift_Del	DEL	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.P667fs	ENST00000215957.6	37	c.1995	CCDS13961.1	22																																																																																			MICALL1	-	NULL	ENSG00000100139		0.622	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	37	0.00	0	C	NM_033386		38327919	38327919	+1	no_errors	ENST00000215957	ensembl	human	known	69_37n	frame_shift_del	24	68.04	66	DEL	1.000	-
MICALL1	85377	genome.wustl.edu	37	22	38327923	38327924	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	CC	CC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr22:38327923_38327924delCC	ENST00000215957.6	+	10	2125_2126	c.1999_2000delCC	c.(1999-2001)ccafs	p.P667fs	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	667	Pro-rich.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACACGGCTTTCCACTCATCAAA	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1999_2000delCC	22.37:g.38327923_38327924delCC	ENSP00000215957:p.Pro667fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Frame_Shift_Del	DEL	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.P667fs	ENST00000215957.6	37	c.1999_2000	CCDS13961.1	22																																																																																			MICALL1	-	NULL	ENSG00000100139		0.624	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	34	0.00	0	CC	NM_033386		38327923	38327924	+1	no_errors	ENST00000215957	ensembl	human	known	69_37n	frame_shift_del	23	74.16	66	DEL	1.000:1.000	-
MRPL43	84545	genome.wustl.edu	37	10	102746498	102746499	+	Intron	INS	-	-	C			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr10:102746498_102746499insC	ENST00000318325.2	-	3	519				MRPL43_ENST00000370234.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000299179.5_Intron|C10orf2_ENST00000370228.1_5'Flank|MRPL43_ENST00000493646.1_5'UTR|MRPL43_ENST00000318364.8_Frame_Shift_Ins_p.A158fs|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370242.4_Intron|C10orf2_ENST00000311916.2_5'Flank|MRPL43_ENST00000370236.1_Frame_Shift_Ins_p.A158fs|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000477279.1_3'UTR	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TCTTCACTGTGCTTGCACCTGG	0.609																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB049656	CCDS7502.1, CCDS7503.1, CCDS7504.1, CCDS7505.1	10q24.31	2012-09-13			ENSG00000055950	ENSG00000055950		"""Mitochondrial ribosomal proteins / large subunits"""	14517	protein-coding gene	gene with protein product		611848					Standard	NM_176792		Approved	bMRP36a	uc001ksa.1	Q8N983	OTTHUMG00000018920	ENST00000318325.2:c.465+6->G	10.37:g.102746499_102746499dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AL06|B1AL07|B1AL09|B1AL10|C9J5Q3|D3DR71|Q5JW06|Q7Z719|Q7Z7H6|Q86XN1|Q9BYC7	Frame_Shift_Ins	INS	pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH	p.A158fs	ENST00000318325.2	37	c.473_472	CCDS7502.1	10																																																																																			MRPL43	-	NULL	ENSG00000055950		0.609	MRPL43-002	KNOWN	basic|CCDS	protein_coding	MRPL43	HGNC	protein_coding	OTTHUMT00000049902.1	21	0.00	0	-			102746498	102746499	-1	no_errors	ENST00000318364	ensembl	human	known	69_37n	frame_shift_ins	5	37.50	3	INS	0.000:0.000	C
MYO5B	4645	genome.wustl.edu	37	18	47431047	47431047	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr18:47431047G>A	ENST00000285039.7	-	20	2865	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	MYO5B_ENST00000324581.6_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	856	Arg-rich.|IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)		CTCACCTGGCGGTAGGTTCTC	0.582																																						dbGAP											0													36.0	43.0	41.0					18																	47431047		1953	4150	6103	-	-	-	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.2566C>T	18.37:g.47431047G>A	ENSP00000285039:p.Arg856Cys	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.R856C	ENST00000285039.7	37	c.2566	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450032	0.43531	.	.	ENSG00000167306	ENST00000285039	T	0.73681	-0.77	5.26	5.26	0.73747	.	0.707313	0.14327	N	0.326633	T	0.77928	0.4204	M	0.77820	2.39	0.80722	D	1	B	0.19073	0.033	B	0.19666	0.026	T	0.74234	-0.3731	10	0.48119	T	0.1	.	18.4701	0.90771	0.0:0.0:1.0:0.0	.	856	Q9ULV0	MYO5B_HUMAN	C	856	ENSP00000285039:R856C	ENSP00000285039:R856C	R	-	1	0	MYO5B	45685045	1.000000	0.71417	0.998000	0.56505	0.398000	0.30690	4.305000	0.59110	2.442000	0.82660	0.655000	0.94253	CGC	MYO5B	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000167306		0.582	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	34	0.00	0	G			47431047	47431047	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	1.000	A
OR13A1	79290	genome.wustl.edu	37	10	45799219	45799219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr10:45799219delC	ENST00000553795.1	-	4	960	c.652delG	c.(652-654)gtcfs	p.V218fs	OR13A1_ENST00000536058.1_Frame_Shift_Del_p.V218fs|OR13A1_ENST00000374401.2_Frame_Shift_Del_p.V218fs	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCCGCCAGGACAATCATGACA	0.542																																						dbGAP											0													78.0	77.0	77.0					10																	45799219		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.652delG	10.37:g.45799219delC	ENSP00000451950:p.Val218fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V218fs	ENST00000553795.1	37	c.652	CCDS31188.1	10																																																																																			OR13A1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000256574		0.542	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	HGNC	protein_coding	OTTHUMT00000047779.2	133	0.00	0	C	NM_001004297		45799219	45799219	-1	no_errors	ENST00000374401	ensembl	human	known	69_37n	frame_shift_del	100	47.96	94	DEL	0.005	-
OR52M1	119772	genome.wustl.edu	37	11	4567110	4567110	+	Silent	SNP	G	G	T			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr11:4567110G>T	ENST00000360213.1	+	1	690	c.690G>T	c.(688-690)ggG>ggT	p.G230G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCGTGATGGGGTTAGCCACTC	0.498																																						dbGAP											0													275.0	253.0	261.0					11																	4567110		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.690G>T	11.37:g.4567110G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.G230	ENST00000360213.1	37	c.690	CCDS31353.1	11																																																																																			OR52M1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000197790		0.498	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52M1	HGNC	protein_coding	OTTHUMT00000385847.1	516	0.39	2	G	NM_001004137		4567110	4567110	+1	no_errors	ENST00000360213	ensembl	human	known	69_37n	silent	531	15.45	97	SNP	0.005	T
PAPOLB	56903	genome.wustl.edu	37	7	4900572	4900572	+	Silent	SNP	C	C	T			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr7:4900572C>T	ENST00000404991.1	-	1	1053	c.867G>A	c.(865-867)gaG>gaA	p.E289E	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	289					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GTTCTTCAGGCTCCTTCAGTA	0.443																																						dbGAP											0													133.0	130.0	131.0					7																	4900572		2199	4299	6498	-	-	-	SO:0001819	synonymous_variant	0			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.867G>A	7.37:g.4900572C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q75LH1|Q8NE14	Silent	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.E289	ENST00000404991.1	37	c.867		7																																																																																			PAPOLB	-	pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase	ENSG00000218823		0.443	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	PAPOLB	HGNC	protein_coding	OTTHUMT00000323797.1	315	0.00	0	C	NM_020144		4900572	4900572	-1	no_errors	ENST00000404991	ensembl	human	known	69_37n	silent	108	17.56	23	SNP	1.000	T
SEMA3B	7869	genome.wustl.edu	37	3	50311832	50311832	+	RNA	DEL	G	G	-			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr3:50311832delG	ENST00000418948.1	+	0	1410							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTTCCACCAAGGACTTCCCAG	0.587											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													109.0	110.0	110.0					3																	50311832		1961	4156	6117	-	-	-			0			U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311832delG		Somatic	968	WXS	Illumina GAIIx	Phase_IV	Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	RNA	DEL	-	NULL	ENST00000418948.1	37	NULL		3																																																																																			SEMA3B	-	-	ENSG00000012171		0.587	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	SEMA3B	HGNC	processed_transcript	OTTHUMT00000346890.2	69	0.00	0	G	NM_001005914		50311832	50311832	+1	no_errors	ENST00000316347	ensembl	human	known	69_37n	rna	13	13.33	2	DEL	1.000	-
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	185	0.54	1	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	310	20.87	82	SNP	1.000	G
WNK1	65125	genome.wustl.edu	37	12	970284	970284	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chr12:970284C>T	ENST00000315939.6	+	7	2369	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	WNK1_ENST00000340908.4_Missense_Mutation_p.R169W|WNK1_ENST00000537687.1_Missense_Mutation_p.R576W|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000535572.1_Missense_Mutation_p.R576W|WNK1_ENST00000530271.2_Missense_Mutation_p.R576W	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	576					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCAGTTGGTACGGGAGGAGCA	0.468																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0													110.0	113.0	112.0					12																	970284		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1726C>T	12.37:g.970284C>T	ENSP00000313059:p.Arg576Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R576W	ENST00000315939.6	37	c.1726	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760818	0.69763	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.67	4.7	0.59300	.	0.000000	0.64402	D	0.000013	T	0.42449	0.1203	M	0.76328	2.33	0.35303	D	0.783234	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.994;0.994;0.986	T	0.59568	-0.7430	10	0.66056	D	0.02	-11.8184	14.9876	0.71359	0.2611:0.7389:0.0:0.0	.	576;576;576	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	W	576;576;576;23;576;169	ENSP00000441972:R576W;ENSP00000313059:R576W;ENSP00000444465:R576W;ENSP00000433548:R576W;ENSP00000341292:R169W	ENSP00000252477:R23W	R	+	1	2	WNK1	840545	0.942000	0.31987	0.967000	0.41034	0.997000	0.91878	1.715000	0.37971	1.326000	0.45319	0.591000	0.81541	CGG	WNK1	-	NULL	ENSG00000060237		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	402	0.24	1	C	NM_018979		970284	970284	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	missense	430	18.01	96	SNP	0.957	T
ZCCHC16	340595	genome.wustl.edu	37	X	111698592	111698592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A7-A0CG-01A-11W-A019-09	TCGA-A7-A0CG-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	351275c7-70ca-4ddc-be76-a6ff4dc7655e	b7b01df0-5282-4fbd-89f4-d52e050d047a	g.chrX:111698592C>A	ENST00000340433.2	+	1	866	c.636C>A	c.(634-636)tgC>tgA	p.C212*		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	212							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCACTCAGTGCATTCAGTTGG	0.483																																						dbGAP											0													156.0	132.0	140.0					X																	111698592		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.636C>A	X.37:g.111698592C>A	ENSP00000340590:p.Cys212*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG1	Nonsense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.C212*	ENST00000340433.2	37	c.636	CCDS35369.1	X	.	.	.	.	.	.	.	.	.	.	C	36	5.718913	0.96839	.	.	ENSG00000187823	ENST00000340433	.	.	.	4.12	1.05	0.20165	.	0.292459	0.24983	N	0.034052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-5.4659	5.1258	0.14884	0.0:0.4091:0.0:0.5909	.	.	.	.	X	212	.	ENSP00000340590:C212X	C	+	3	2	ZCCHC16	111585248	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	0.212000	0.17497	0.078000	0.16900	0.529000	0.55759	TGC	ZCCHC16	-	NULL	ENSG00000187823		0.483	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC16	HGNC	protein_coding	OTTHUMT00000356964.1	873	0.00	0	C	NM_001004308		111698592	111698592	+1	no_errors	ENST00000340433	ensembl	human	known	69_37n	nonsense	808	18.96	189	SNP	0.999	A
