#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
ADAMTS14	140766	genome.wustl.edu	37	10	72511877	72511877	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr10:72511877C>T	ENST00000373207.1	+	18	2623	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R878W	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	875	Poly-Arg.|TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATACGGCTGCCGGCGCAGACG	0.667																																						dbGAP											0													39.0	40.0	40.0					10																	72511877		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2623C>T	10.37:g.72511877C>T	ENSP00000362303:p.Arg875Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R878W	ENST00000373207.1	37	c.2632	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365727	0.61513	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61274	0.12;0.12	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	M	0.79258	2.445	0.42349	D	0.992361	P;D	0.56035	0.801;0.974	B;P	0.50192	0.223;0.634	T	0.68618	-0.5361	10	0.42905	T	0.14	.	12.2123	0.54386	0.1703:0.8297:0.0:0.0	.	875;878	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	W	878;875	ENSP00000362304:R878W;ENSP00000362303:R875W	ENSP00000362303:R875W	R	+	1	2	ADAMTS14	72181883	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	1.694000	0.37752	2.344000	0.79699	0.655000	0.94253	CGG	ADAMTS14	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000138316		0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	114	0.00	0	C	NM_080722		72511877	72511877	+1	no_errors	ENST00000373208	ensembl	human	known	69_37n	missense	33	13.16	5	SNP	1.000	T
ANP32A	8125	genome.wustl.edu	37	15	69079873	69079873	+	Splice_Site	SNP	A	A	C			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr15:69079873A>C	ENST00000465139.2	-	3	349	c.206T>G	c.(205-207)cTt>cGt	p.L69R	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Splice_Site_p.L69R	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	69					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						GCTTAGTTCAAGCTAAATAAG	0.463																																						dbGAP											0													67.0	70.0	69.0					15																	69079873		2195	4298	6493	-	-	-	SO:0001630	splice_region_variant	0			AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.205-1T>G	15.37:g.69079873A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_U2A'_phosphoprotein32A_C	p.L69R	ENST00000465139.2	37	c.206	CCDS45292.1	15	.	.	.	.	.	.	.	.	.	.	A	25.7	4.669352	0.88348	.	.	ENSG00000140350	ENST00000358235;ENST00000465139	T	0.63255	-0.03	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91127	0.4934	10	0.87932	D	0	.	14.969	0.71217	1.0:0.0:0.0:0.0	.	69	P39687	AN32A_HUMAN	R	69	ENSP00000417864:L69R	ENSP00000350970:L69R	L	-	2	0	ANP32A	66866927	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.228000	0.95250	2.133000	0.65898	0.533000	0.62120	CTT	ANP32A	-	NULL	ENSG00000140350		0.463	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32A	HGNC	protein_coding	OTTHUMT00000335525.2	58	0.00	0	A		Missense_Mutation	69079873	69079873	-1	no_errors	ENST00000465139	ensembl	human	known	69_37n	missense	28	28.21	11	SNP	1.000	C
ARPC5	10092	genome.wustl.edu	37	1	183596216	183596216	+	3'UTR	SNP	G	G	A			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr1:183596216G>A	ENST00000359856.6	-	0	973				ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000367534.1_Intron|ARPC5_ENST00000294742.6_3'UTR	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa						actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						GTTTTGCAATGTTAATAGCTG	0.338																																					Melanoma(136;1596 1789 3041 4830 41075)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"""Actin related protein 2/3 complex subunits"""	708	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p16"""	604227	"""actin related protein 2/3 complex, subunit 5 (16 kD)"""			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.*451C>T	1.37:g.183596216G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEC4|Q6PG42	RNA	SNP	-	NULL	ENST00000359856.6	37	NULL	CCDS1357.1	1																																																																																			ARPC5	-	-	ENSG00000162704		0.338	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARPC5	HGNC	protein_coding	OTTHUMT00000085477.1	41	0.00	0	G	NM_005717		183596216	183596216	-1	no_errors	ENST00000462965	ensembl	human	known	69_37n	rna	26	23.53	8	SNP	0.990	A
BAZ1A	11177	genome.wustl.edu	37	14	35269544	35269544	+	Missense_Mutation	SNP	C	C	A			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr14:35269544C>A	ENST00000382422.2	-	8	1341	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	AL355885.1_ENST00000581314.1_RNA|BAZ1A_ENST00000360310.1_Missense_Mutation_p.K338N|BAZ1A_ENST00000358716.4_Missense_Mutation_p.K338N			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	338					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		tttcttttttcttcgcttctA	0.284																																						dbGAP											0													28.0	29.0	29.0					14																	35269544		2193	4263	6456	-	-	-	SO:0001583	missense	0			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1014G>T	14.37:g.35269544C>A	ENSP00000371859:p.Lys338Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.K338N	ENST00000382422.2	37	c.1014	CCDS9651.1	14	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496297	0.44352	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	D;D;D	0.91407	-2.84;-2.84;-2.84	4.96	-1.18	0.09617	.	0.575872	0.18781	N	0.131333	T	0.81669	0.4871	L	0.34521	1.04	0.31950	N	0.609764	P;P	0.39480	0.675;0.546	B;B	0.35550	0.205;0.101	T	0.78430	-0.2207	10	0.72032	D	0.01	.	8.3278	0.32167	0.0:0.4028:0.0:0.5972	.	338;338	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	N	338;338;338;22	ENSP00000351555:K338N;ENSP00000371859:K338N;ENSP00000353458:K338N	ENSP00000351555:K338N	K	-	3	2	BAZ1A	34339295	0.995000	0.38212	0.979000	0.43373	0.990000	0.78478	0.025000	0.13577	-0.126000	0.11682	0.591000	0.81541	AAG	BAZ1A	-	NULL	ENSG00000198604		0.284	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	25	0.00	0	C			35269544	35269544	-1	no_errors	ENST00000360310	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	0.975	A
BLMH	642	genome.wustl.edu	37	17	28598355	28598355	+	Silent	SNP	C	C	A	rs144143710	byFrequency	TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr17:28598355C>A	ENST00000261714.6	-	10	1254	c.1080G>T	c.(1078-1080)gcG>gcT	p.A360A	BLMH_ENST00000582669.1_5'Flank|BLMH_ENST00000394819.3_Silent_p.A273A	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	360					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	TCAGCCTCTCCGCTTTATTCA	0.453																																					Pancreas(127;628 1772 12912 33293 36203)	dbGAP											0													129.0	117.0	121.0					17																	28598355		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.1080G>T	17.37:g.28598355C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R796|Q53F86|Q9UER9	Silent	SNP	pfam_Peptidase_C1B,pirsf_Peptidase_C1B	p.A360	ENST00000261714.6	37	c.1080	CCDS32604.1	17																																																																																			BLMH	-	pfam_Peptidase_C1B,pirsf_Peptidase_C1B	ENSG00000108578		0.453	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLMH	HGNC	protein_coding	OTTHUMT00000447940.1	86	0.00	0	C	NM_000386		28598355	28598355	-1	no_errors	ENST00000261714	ensembl	human	known	69_37n	silent	32	20.00	8	SNP	0.575	A
C1QTNF2	114898	genome.wustl.edu	37	5	159781942	159781943	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr5:159781942_159781943insC	ENST00000393975.3	-	2	214_215	c.211_212insG	c.(211-213)gacfs	p.D71fs		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	26	Collagen-like.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTCCGGAAGTCCCTGCGAGCA	0.678																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.212dupG	5.37:g.159781945_159781945dupC	ENSP00000377545:p.Asp71fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.D71fs	ENST00000393975.3	37	c.212_211	CCDS4351.2	5																																																																																			C1QTNF2	-	NULL	ENSG00000145861		0.678	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF2	HGNC	protein_coding	OTTHUMT00000252672.2	51	0.00	0	-			159781942	159781943	-1	no_errors	ENST00000393975	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.993:0.994	C
CA2	760	genome.wustl.edu	37	8	86392979	86392979	+	Missense_Mutation	SNP	G	G	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr8:86392979G>T	ENST00000285379.5	+	7	974	c.744G>T	c.(742-744)caG>caT	p.Q248H		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	248					angiotensin-activated signaling pathway (GO:0038166)|bicarbonate transport (GO:0015701)|kidney development (GO:0001822)|morphogenesis of an epithelium (GO:0002009)|odontogenesis of dentin-containing tooth (GO:0042475)|one-carbon metabolic process (GO:0006730)|positive regulation of bone resorption (GO:0045780)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of dipeptide transmembrane transport (GO:2001150)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of anion transport (GO:0044070)|regulation of chloride transport (GO:2001225)|regulation of intracellular pH (GO:0051453)|response to estrogen (GO:0043627)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Furosemide(DB00695)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GCCCAGCTCAGCCACTGAAGA	0.433																																						dbGAP											0													105.0	95.0	99.0					8																	86392979		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03037	CCDS6239.1	8q21.2	2012-10-02			ENSG00000104267	ENSG00000104267	4.2.1.1	"""Carbonic anhydrases"""	1373	protein-coding gene	gene with protein product		611492				3107918	Standard	NM_000067		Approved	Car2, CA-II, CAII	uc003ydk.2	P00918	OTTHUMG00000164944	ENST00000285379.5:c.744G>T	8.37:g.86392979G>T	ENSP00000285379:p.Gln248His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7G8|Q6FI12|Q96ET9	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.Q248H	ENST00000285379.5	37	c.744	CCDS6239.1	8	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676918	0.67928	.	.	ENSG00000104267	ENST00000285379	D	0.94613	-3.47	5.84	4.03	0.46877	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.052701	0.85682	D	0.000000	D	0.98289	0.9433	H	0.98701	4.305	0.58432	D	0.999995	D	0.76494	0.999	D	0.79108	0.992	D	0.98530	1.0627	10	0.87932	D	0	-20.0105	11.9068	0.52717	0.1424:0.0:0.8576:0.0	.	248	P00918	CAH2_HUMAN	H	248	ENSP00000285379:Q248H	ENSP00000285379:Q248H	Q	+	3	2	CA2	86580231	1.000000	0.71417	0.991000	0.47740	0.494000	0.33585	3.376000	0.52417	1.451000	0.47736	0.650000	0.86243	CAG	CA2	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000104267		0.433	CA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA2	HGNC	protein_coding	OTTHUMT00000381097.2	58	0.00	0	G	NM_000067		86392979	86392979	+1	no_errors	ENST00000285379	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	1.000	T
CCDC61	729440	genome.wustl.edu	37	19	46506715	46506715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr19:46506715C>T	ENST00000595358.1	+	3	236	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	CCDC61_ENST00000594087.1_Nonsense_Mutation_p.Q63*|CCDC61_ENST00000536603.1_Nonsense_Mutation_p.Q63*|CCDC61_ENST00000263284.2_Nonsense_Mutation_p.Q120*	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	63						centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		GAACTTCAAACAGTTCAACAT	0.562																																						dbGAP											0													44.0	47.0	46.0					19																	46506715		2051	4225	6276	-	-	-	SO:0001587	stop_gained	0				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.187C>T	19.37:g.46506715C>T	ENSP00000471454:p.Gln63*	Somatic		WXS	Illumina GAIIx	Phase_IV	C8CAP4|Q9HDB6	Nonsense_Mutation	SNP	NULL	p.Q120*	ENST00000595358.1	37	c.358	CCDS46120.2	19	.	.	.	.	.	.	.	.	.	.	C	35	5.413952	0.96072	.	.	ENSG00000104983	ENST00000263284;ENST00000536603	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-30.3374	14.1308	0.65253	0.0:1.0:0.0:0.0	.	.	.	.	X	120;63	.	ENSP00000263284:Q120X	Q	+	1	0	CCDC61	51198555	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.922000	0.75811	2.183000	0.69458	0.551000	0.68910	CAG	CCDC61	-	NULL	ENSG00000104983		0.562	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CCDC61	HGNC	protein_coding	OTTHUMT00000461689.1	52	0.00	0	C	NM_001080402		46506715	46506715	+1	no_errors	ENST00000263284	ensembl	human	known	69_37n	nonsense	25	28.57	10	SNP	1.000	T
DMXL2	23312	genome.wustl.edu	37	15	51780830	51780830	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr15:51780830delA	ENST00000251076.5	-	21	5253	c.4966delT	c.(4966-4968)tctfs	p.S1656fs	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Frame_Shift_Del_p.S1020fs|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.S1656fs	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1656						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTTTGAAAAGAAGCTTTGGCA	0.338																																						dbGAP											0													114.0	103.0	106.0					15																	51780830		2195	4293	6488	-	-	-	SO:0001589	frameshift_variant	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4966delT	15.37:g.51780830delA	ENSP00000251076:p.Ser1656fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Frame_Shift_Del	DEL	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1656fs	ENST00000251076.5	37	c.4966	CCDS10141.1	15																																																																																			DMXL2	-	pfam_Rav1p_C	ENSG00000104093		0.338	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	56	0.00	0	A	NM_015263		51780830	51780830	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	0.997	-
EML5	161436	genome.wustl.edu	37	14	89154694	89154694	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr14:89154694C>T	ENST00000380664.5	-	18	2662	c.2663G>A	c.(2662-2664)tGt>tAt	p.C888Y	EML5_ENST00000554922.1_Missense_Mutation_p.C888Y|EML5_ENST00000352093.5_Missense_Mutation_p.C850Y			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	888						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTCCAGATACACACATCTCC	0.423																																						dbGAP											0													291.0	286.0	288.0					14																	89154694		1974	4163	6137	-	-	-	SO:0001583	missense	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2663G>A	14.37:g.89154694C>T	ENSP00000370039:p.Cys888Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C888Y	ENST00000380664.5	37	c.2663	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	C	6.989	0.552624	0.13374	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.50813	1.73;0.73;2.94	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.15132	0.0365	N	0.00178	-1.915	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.36866	-0.9730	10	0.07990	T	0.79	-13.9745	18.3062	0.90182	0.0:1.0:0.0:0.0	.	888;888	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	Y	888;850;888	ENSP00000451998:C888Y;ENSP00000298315:C850Y;ENSP00000370039:C888Y	ENSP00000298315:C850Y	C	-	2	0	EML5	88224447	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.628000	0.67791	2.636000	0.89361	0.655000	0.94253	TGT	EML5	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000165521		0.423	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	126	0.00	0	C			89154694	89154694	-1	no_errors	ENST00000554922	ensembl	human	known	69_37n	missense	34	34.62	18	SNP	1.000	T
ERBB4	2066	genome.wustl.edu	37	2	212587168	212587168	+	Missense_Mutation	SNP	T	T	C			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr2:212587168T>C	ENST00000342788.4	-	7	1143	c.833A>G	c.(832-834)aAt>aGt	p.N278S	ERBB4_ENST00000402597.1_Missense_Mutation_p.N278S|ERBB4_ENST00000484474.1_5'Flank|ERBB4_ENST00000436443.1_Missense_Mutation_p.N278S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	278	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TGCATTGAAATTGTGCTCCAG	0.383										TSP Lung(8;0.080)																												dbGAP											0													176.0	162.0	167.0					2																	212587168		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.833A>G	2.37:g.212587168T>C	ENSP00000342235:p.Asn278Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.N278S	ENST00000342788.4	37	c.833	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.0|26.0	4.693524|4.693524	0.88735|0.88735	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.27557	.|1.66;1.66;1.66	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65863|0.65863	0.2732|0.2732	M|M	0.92833|0.92833	3.35|3.35	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;0.998;0.998	.|D;D;D;D;D	.|0.97110	.|0.994;1.0;1.0;0.994;0.997	T|T	0.74799|0.74799	-0.3542|-0.3542	5|10	.|0.66056	.|D	.|0.02	.|.	16.1946|16.1946	0.82018|0.82018	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|278;278;137;278;278	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	V|S	278|278	.|ENSP00000342235:N278S;ENSP00000403204:N278S;ENSP00000385565:N278S	.|ENSP00000342235:N278S	I|N	-|-	1|2	0|0	ERBB4|ERBB4	212295413|212295413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	7.977000|7.977000	0.88081|0.88081	2.228000|2.228000	0.72767|0.72767	0.528000|0.528000	0.53228|0.53228	ATT|AAT	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt	ENSG00000178568		0.383	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	100	0.00	0	T	NM_001042599		212587168	212587168	-1	no_errors	ENST00000342788	ensembl	human	known	69_37n	missense	43	32.81	21	SNP	1.000	C
FBN3	84467	genome.wustl.edu	37	19	8176940	8176940	+	Silent	SNP	G	G	A			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr19:8176940G>A	ENST00000600128.1	-	31	4296	c.3882C>T	c.(3880-3882)caC>caT	p.H1294H	FBN3_ENST00000270509.2_Silent_p.H1294H|FBN3_ENST00000601739.1_Silent_p.H1294H			Q75N90	FBN3_HUMAN	fibrillin 3	1294	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GACAGGAGGCGTGACTGTCAC	0.582																																						dbGAP											0													162.0	133.0	143.0					19																	8176940		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3882C>T	19.37:g.8176940G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.H1294	ENST00000600128.1	37	c.3882	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000142449		0.582	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	61	0.00	0	G	NM_032447		8176940	8176940	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	silent	25	13.79	4	SNP	0.566	A
FLRT2	23768	genome.wustl.edu	37	14	86088823	86088823	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr14:86088823C>T	ENST00000330753.4	+	2	1732	c.965C>T	c.(964-966)aCa>aTa	p.T322I	FLRT2_ENST00000554746.1_Missense_Mutation_p.T322I	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	322	LRRCT.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAATGGGTCACAGAATGGCTC	0.478																																						dbGAP											0													157.0	166.0	163.0					14																	86088823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.965C>T	14.37:g.86088823C>T	ENSP00000332879:p.Thr322Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV84|B7ZLP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.T322I	ENST00000330753.4	37	c.965	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	C	8.548	0.874808	0.17395	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.02280	4.36;4.36	5.97	5.97	0.96955	Cysteine-rich flanking region, C-terminal (1);	0.161268	0.56097	D	0.000032	T	0.01661	0.0053	N	0.02708	-0.52	0.43814	D	0.996374	B	0.12013	0.005	B	0.09377	0.004	T	0.66787	-0.5835	10	0.21014	T	0.42	-11.6094	20.4239	0.99064	0.0:1.0:0.0:0.0	.	322	O43155	FLRT2_HUMAN	I	322	ENSP00000332879:T322I;ENSP00000451050:T322I	ENSP00000332879:T322I	T	+	2	0	FLRT2	85158576	0.999000	0.42202	0.968000	0.41197	0.979000	0.70002	3.776000	0.55356	2.828000	0.97474	0.655000	0.94253	ACA	FLRT2	-	smart_Cys-rich_flank_reg_C	ENSG00000185070		0.478	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	150	0.00	0	C			86088823	86088823	+1	no_errors	ENST00000330753	ensembl	human	known	69_37n	missense	69	13.75	11	SNP	0.995	T
GALNT1	2589	genome.wustl.edu	37	18	33257560	33257560	+	Missense_Mutation	SNP	A	A	G			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr18:33257560A>G	ENST00000269195.5	+	3	423	c.320A>G	c.(319-321)aAa>aGa	p.K107R	GALNT1_ENST00000537549.1_Missense_Mutation_p.K47R	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	107					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCTAGGTGTAAAACAAAGGTG	0.378																																						dbGAP											0													129.0	117.0	121.0					18																	33257560		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.320A>G	18.37:g.33257560A>G	ENSP00000269195:p.Lys107Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86TJ7|Q9UM86	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K107R	ENST00000269195.5	37	c.320	CCDS11915.1	18	.	.	.	.	.	.	.	.	.	.	A	17.93	3.507982	0.64410	.	.	ENSG00000141429	ENST00000537748;ENST00000269195;ENST00000537549	T;T	0.58940	0.3;0.3	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.38692	1.165	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38200	-0.9672	10	0.18276	T	0.48	.	14.2753	0.66175	1.0:0.0:0.0:0.0	.	107	Q10472	GALT1_HUMAN	R	107;107;47	ENSP00000269195:K107R;ENSP00000440910:K47R	ENSP00000269195:K107R	K	+	2	0	GALNT1	31511558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.109000	0.94291	2.254000	0.74563	0.482000	0.46254	AAA	GALNT1	-	NULL	ENSG00000141429		0.378	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT1	HGNC	protein_coding	OTTHUMT00000255771.2	38	0.00	0	A	NM_020474		33257560	33257560	+1	no_errors	ENST00000269195	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	G
GBE1	2632	genome.wustl.edu	37	3	81630320	81630320	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr3:81630320T>A	ENST00000429644.2	-	11	2085	c.1442A>T	c.(1441-1443)gAt>gTt	p.D481V	GBE1_ENST00000489715.1_Missense_Mutation_p.D440V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	481					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ATTTACCTGATCATGGCTCTC	0.358									Glycogen Storage Disease, type IV																													dbGAP											0													105.0	99.0	101.0					3																	81630320		1871	4099	5970	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1442A>T	3.37:g.81630320T>A	ENSP00000410833:p.Asp481Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWV3|Q96EN0	Missense_Mutation	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.D481V	ENST00000429644.2	37	c.1442	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907343	0.72868	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.98329	-4.87;-4.87	5.33	5.33	0.75918	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.048311	0.85682	D	0.000000	D	0.99432	0.9799	H	0.98951	4.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.983;1.0	D	0.98106	1.0417	10	0.87932	D	0	-19.656	15.2663	0.73663	0.0:0.0:0.0:1.0	.	440;481	E9PGM4;Q04446	.;GLGB_HUMAN	V	481;532;440;244	ENSP00000410833:D481V;ENSP00000419638:D440V	ENSP00000264326:D532V	D	-	2	0	GBE1	81713010	1.000000	0.71417	0.999000	0.59377	0.637000	0.38172	7.678000	0.84035	2.013000	0.59113	0.533000	0.62120	GAT	GBE1	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000114480		0.358	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	52	0.00	0	T			81630320	81630320	-1	no_errors	ENST00000429644	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	1.000	A
HOOK2	29911	genome.wustl.edu	37	19	12875997	12875997	+	Intron	SNP	C	C	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr19:12875997C>T	ENST00000397668.3	-	19	1714				HOOK2_ENST00000589965.1_5'UTR|HOOK2_ENST00000264827.5_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2						early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AATGCCCCTACATGGCCACAG	0.657											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1641-102G>A	19.37:g.12875997C>T		Somatic	683	WXS	Illumina GAIIx	Phase_IV	O60562	RNA	SNP	-	NULL	ENST00000397668.3	37	NULL	CCDS42508.1	19																																																																																			HOOK2	-	-	ENSG00000095066		0.657	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1	34	0.00	0	C	NM_013312		12875997	12875997	-1	no_errors	ENST00000589965	ensembl	human	known	69_37n	rna	11	26.67	4	SNP	0.001	T
HRCT1	646962	genome.wustl.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	CTG	-	rs370606246		TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr9:35906348_35906350delCTG	ENST00000354323.2	+	1	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	28						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.67																																						dbGAP											0										367,3839		38,291,1774						-8.3	0.0			23	737,7385		88,561,3412	no	coding	HRCT1	NM_001039792.1		126,852,5186	A1A1,A1R,RR		9.0741,8.7256,8.9552				1104,11224				-	-	-	SO:0001651	inframe_deletion	0				CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.64_66delCTG	9.37:g.35906357_35906359delCTG	ENSP00000346283:p.Leu28del	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBJ1	In_Frame_Del	DEL	NULL	p.L25in_frame_del	ENST00000354323.2	37	c.64_66	CCDS35012.1	9																																																																																			HRCT1	-	NULL	ENSG00000196196		0.670	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRCT1	HGNC	protein_coding	OTTHUMT00000334099.1	34	0.00	0	CTG	NM_001039792		35906348	35906350	+1	no_errors	ENST00000354323	ensembl	human	known	69_37n	in_frame_del	19	13.64	3	DEL	0.168:0.493:0.516	-
KLF11	8462	genome.wustl.edu	37	2	10192480	10192480	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr2:10192480G>A	ENST00000305883.1	+	4	1547	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	KLF11_ENST00000535335.1_Missense_Mutation_p.R445H|RP11-254F7.3_ENST00000607181.1_RNA|KLF11_ENST00000540845.1_Missense_Mutation_p.R445H	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	462					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGTGACCGACGTTTCATGCGC	0.562																																					Melanoma(56;431 1507 23687 50789)	dbGAP											0													105.0	97.0	100.0					2																	10192480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1385G>A	2.37:g.10192480G>A	ENSP00000307023:p.Arg462His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZE7|Q9EPF4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R462H	ENST00000305883.1	37	c.1385	CCDS1668.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.825469	0.96996	.	.	ENSG00000172059	ENST00000305883;ENST00000540845;ENST00000535335	T;T;T	0.19938	2.11;2.11;2.11	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47322	0.1439	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.26467	-1.0102	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	462	O14901	KLF11_HUMAN	H	462;445;445	ENSP00000307023:R462H;ENSP00000444690:R445H;ENSP00000442722:R445H	ENSP00000307023:R462H	R	+	2	0	KLF11	10109931	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.835000	0.99442	2.894000	0.99253	0.591000	0.81541	CGT	KLF11	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172059		0.562	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLF11	HGNC	protein_coding	OTTHUMT00000239202.3	53	0.00	0	G	NM_003597		10192480	10192480	+1	no_errors	ENST00000305883	ensembl	human	known	69_37n	missense	24	22.58	7	SNP	1.000	A
LRBA	987	genome.wustl.edu	37	4	151199019	151199019	+	Silent	SNP	C	C	A			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr4:151199019C>A	ENST00000357115.3	-	57	8730	c.8487G>T	c.(8485-8487)ctG>ctT	p.L2829L	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Silent_p.L2818L|LRBA_ENST00000510413.1_Silent_p.L2817L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2829						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGTCGTAAGACAGCGCCATGG	0.552																																						dbGAP											0													144.0	145.0	144.0					4																	151199019		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.8487G>T	4.37:g.151199019C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom	p.C1471F	ENST00000357115.3	37	c.4412	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	C	0.346	-0.947872	0.02304	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.51	0.585	0.17428	.	.	.	.	.	T	0.42426	0.1202	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20472	-1.0274	4	.	.	.	.	1.8114	0.03091	0.2442:0.4427:0.1129:0.2001	.	.	.	.	F	1471	.	.	C	-	2	0	LRBA	151418469	0.941000	0.31946	0.599000	0.28851	0.099000	0.18886	0.136000	0.15974	-0.226000	0.09899	-0.150000	0.13652	TGT	LRBA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198589		0.552	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	87	0.00	0	C			151199019	151199019	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000509835	ensembl	human	novel	69_37n	missense	46	11.54	6	SNP	1.000	A
LRRTM1	347730	genome.wustl.edu	37	2	80530774	80530774	+	Silent	SNP	G	G	A			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr2:80530774G>A	ENST00000295057.3	-	2	827	c.171C>T	c.(169-171)ctC>ctT	p.L57L	CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.L57L|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	57	LRRNT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCCTCGGTGAGGTTGAGCG	0.706										HNSCC(69;0.2)																												dbGAP											0													22.0	27.0	26.0					2																	80530774		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.171C>T	2.37:g.80530774G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K397|D6W5K1|Q96DN1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L57	ENST00000295057.3	37	c.171	CCDS1966.1	2																																																																																			LRRTM1	-	NULL	ENSG00000162951		0.706	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	30	0.00	0	G	NM_178839		80530774	80530774	-1	no_errors	ENST00000295057	ensembl	human	known	69_37n	silent	13	43.48	10	SNP	1.000	A
MAML2	84441	genome.wustl.edu	37	11	95712715	95712715	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr11:95712715C>T	ENST00000524717.1	-	5	4152	c.2868G>A	c.(2866-2868)atG>atA	p.M956I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	956					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGGATGTGATCATTACGTTTG	0.473			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	dbGAP		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													256.0	229.0	238.0					11																	95712715		2067	4207	6274	-	-	-	SO:0001583	missense	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2868G>A	11.37:g.95712715C>T	ENSP00000434552:p.Met956Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.M956I	ENST00000524717.1	37	c.2868	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379855	0.42207	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.47869	0.83;0.83	5.3	4.37	0.52481	.	0.265070	0.35349	N	0.003277	T	0.40498	0.1119	L	0.38175	1.15	0.38316	D	0.94339	B	0.06786	0.001	B	0.04013	0.001	T	0.33292	-0.9874	10	0.44086	T	0.13	-8.3672	16.1001	0.81166	0.0:0.8657:0.1343:0.0	.	956	Q8IZL2	MAML2_HUMAN	I	956	ENSP00000434552:M956I;ENSP00000412394:M956I	ENSP00000412394:M956I	M	-	3	0	MAML2	95352363	1.000000	0.71417	0.959000	0.39883	0.671000	0.39405	4.540000	0.60664	1.329000	0.45376	0.561000	0.74099	ATG	MAML2	-	NULL	ENSG00000184384		0.473	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	223	0.00	0	C			95712715	95712715	-1	no_errors	ENST00000440572	ensembl	human	known	69_37n	missense	82	11.83	11	SNP	1.000	T
MYO5C	55930	genome.wustl.edu	37	15	52510875	52510875	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr15:52510875delT	ENST00000261839.7	-	32	3956	c.3795delA	c.(3793-3795)gaafs	p.E1265fs		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1265						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATTTTGGGCTTCCAAGGCCC	0.433																																						dbGAP											0													68.0	62.0	64.0					15																	52510875		1891	4114	6005	-	-	-	SO:0001589	frameshift_variant	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3795delA	15.37:g.52510875delT	ENSP00000261839:p.Glu1265fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1W8	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,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.A1266fs	ENST00000261839.7	37	c.3795	CCDS42036.1	15																																																																																			MYO5C	-	NULL	ENSG00000128833		0.433	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	53	0.00	0	T	NM_018728		52510875	52510875	-1	no_errors	ENST00000261839	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	0.210	-
NAAA	27163	genome.wustl.edu	37	4	76835445	76835446	+	3'UTR	DEL	TT	TT	-			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr4:76835445_76835446delTT	ENST00000286733.4	-	0	1263_1264				NAAA_ENST00000511606.1_5'UTR|NAAA_ENST00000399497.3_Intron	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase						lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						CTTTGTCTTATTTTTTAAGGTG	0.307																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.*83AA>-	4.37:g.76835449_76835450delTT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5KTF2|Q96EY2|Q9BRA8	RNA	DEL	-	NULL	ENST00000286733.4	37	NULL	CCDS43239.1	4																																																																																			NAAA	-	-	ENSG00000138744		0.307	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAAA	HGNC	protein_coding	OTTHUMT00000362843.4	29	0.00	0	TT			76835445	76835446	-1	no_errors	ENST00000511606	ensembl	human	known	69_37n	rna	15	11.76	2	DEL	0.000:0.001	-
NCOA7	135112	genome.wustl.edu	37	6	126243859	126243859	+	Missense_Mutation	SNP	G	G	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr6:126243859G>T	ENST00000368357.3	+	14	2754	c.2402G>T	c.(2401-2403)gGg>gTg	p.G801V	NCOA7_ENST00000229634.9_Missense_Mutation_p.G686V|NCOA7_ENST00000392477.2_Missense_Mutation_p.G801V	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	801					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGGGTGCAAGGGTATCCATGG	0.517																																						dbGAP											0													136.0	115.0	122.0					6																	126243859		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2402G>T	6.37:g.126243859G>T	ENSP00000357341:p.Gly801Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc	p.G801V	ENST00000368357.3	37	c.2402	CCDS5132.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.288744|5.288744	0.95517|0.95517	.|.	.|.	ENSG00000111912|ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000433571;ENST00000368353|ENST00000448104;ENST00000438495;ENST00000444128	T;T;T;T|.	0.33216|.	2.55;2.55;2.56;1.42|.	5.97|5.97	5.97|5.97	0.96955|0.96955	TLDc (1);|.	0.100771|.	0.64402|.	D|.	0.000002|.	T|T	0.81273|0.81273	0.4788|0.4788	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.992;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.978;1.0;1.0|.	T|T	0.81143|0.81143	-0.1067|-0.1067	10|5	0.72032|.	D|.	0.01|.	-16.9996|-16.9996	20.0086|20.0086	0.97443|0.97443	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	790;95;790;801|.	B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08|.	.;.;.;NCOA7_HUMAN|.	V|S	801;801;686;111;111|95	ENSP00000357341:G801V;ENSP00000376269:G801V;ENSP00000229634:G686V;ENSP00000411002:G111V|.	ENSP00000229634:G686V|.	G|R	+|+	2|3	0|2	NCOA7|NCOA7	126285552|126285552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.022000|8.022000	0.88759|0.88759	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GGG|AGG	NCOA7	-	smart_TLDc	ENSG00000111912		0.517	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	HGNC	protein_coding	OTTHUMT00000042083.4	132	0.00	0	G	XM_059748		126243859	126243859	+1	no_errors	ENST00000368357	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	T
ODF3L2	284451	genome.wustl.edu	37	19	474621	474621	+	Splice_Site	SNP	C	C	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr19:474621C>T	ENST00000315489.4	-	1	362	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	ODF3L2_ENST00000382696.3_Splice_Site_p.A43T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	43						cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						TGGCACGCACCGTTCTCCAGG	0.672																																						dbGAP											0													27.0	28.0	27.0					19																	474621		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.127+1G>A	19.37:g.474621C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SX65|Q8N1L2	Missense_Mutation	SNP	pfam_SHIPPO-rpt	p.G43S	ENST00000315489.4	37	c.127	CCDS12027.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.311500|4.311500	0.81358|0.81358	.|.	.|.	ENSG00000181781|ENSG00000181781	ENST00000382696|ENST00000315489	T|D	0.45668|0.93811	0.89|-3.29	3.21|3.21	3.21|3.21	0.36854|0.36854	.|.	.|0.561389	.|0.18901	.|N	.|0.128022	D|D	0.93048|0.93048	0.7787|0.7787	L|L	0.31578|0.31578	0.945|0.945	0.29969|0.29969	N|N	0.818681|0.818681	D|D	0.53885|0.89917	0.963|1.0	B|D	0.38755|0.83275	0.281|0.996	D|D	0.88006|0.88006	0.2759|0.2759	8|9	.|.	.|.	.|.	-19.2517|-19.2517	10.0571|10.0571	0.42252|0.42252	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	43|43	Q3SX64-2|Q3SX64	.|OD3L2_HUMAN	T|S	43|43	ENSP00000372143:A43T|ENSP00000318029:G43S	.|.	A|G	-|-	1|1	0|0	ODF3L2|ODF3L2	425621|425621	0.845000|0.845000	0.29573|0.29573	0.312000|0.312000	0.25196|0.25196	0.506000|0.506000	0.33950|0.33950	1.769000|1.769000	0.38522|0.38522	1.793000|1.793000	0.52555|0.52555	0.561000|0.561000	0.74099|0.74099	GCA|GGC	ODF3L2	-	NULL	ENSG00000181781		0.672	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ODF3L2	HGNC	protein_coding	OTTHUMT00000451849.2	75	0.00	0	C	NM_182577	Missense_Mutation	474621	474621	-1	no_errors	ENST00000315489	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	0.398	T
OS9	10956	genome.wustl.edu	37	12	58088018	58088018	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr12:58088018C>G	ENST00000315970.7	+	1	115	c.74C>G	c.(73-75)aCc>aGc	p.T25S	OS9_ENST00000439210.2_Missense_Mutation_p.T25S|OS9_ENST00000257966.8_Missense_Mutation_p.T25S|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Missense_Mutation_p.T25S|OS9_ENST00000435406.2_Missense_Mutation_p.T25S|OS9_ENST00000552285.1_Missense_Mutation_p.T25S|OS9_ENST00000389146.6_Missense_Mutation_p.T25S|OS9_ENST00000389142.5_Missense_Mutation_p.T25S|OS9_ENST00000413095.2_Missense_Mutation_p.T25S	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	25					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCAAGTCTGACCGGCGGTGTC	0.577																																						dbGAP											0													110.0	114.0	113.0					12																	58088018		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.74C>G	12.37:g.58088018C>G	ENSP00000318165:p.Thr25Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.T25S	ENST00000315970.7	37	c.74	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	C	9.849	1.193052	0.21954	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000547079;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000550372;ENST00000389142	T;T;T;T;T;T;T;T;T;T	0.41065	2.01;2.01;1.01;1.96;2.01;1.59;2.01;2.01;2.01;2.01	5.0	5.0	0.66597	.	0.537042	0.20924	N	0.083224	T	0.42040	0.1185	N	0.14661	0.345	0.09310	N	1	B;D;B;B;D;B;B;B	0.58268	0.043;0.974;0.043;0.307;0.982;0.204;0.126;0.361	B;D;B;B;D;B;B;B	0.70487	0.04;0.969;0.027;0.117;0.952;0.055;0.08;0.197	T	0.23368	-1.0190	10	0.07990	T	0.79	-2.9788	13.9722	0.64247	0.0:1.0:0.0:0.0	.	25;25;25;25;25;25;25;25	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	S	25	ENSP00000450010:T25S;ENSP00000318165:T25S;ENSP00000447031:T25S;ENSP00000407360:T25S;ENSP00000373798:T25S;ENSP00000413112:T25S;ENSP00000447866:T25S;ENSP00000257966:T25S;ENSP00000389632:T25S;ENSP00000373794:T25S	ENSP00000257966:T25S	T	+	2	0	OS9	56374285	0.170000	0.23016	0.022000	0.16811	0.194000	0.23727	2.625000	0.46452	2.756000	0.94617	0.563000	0.77884	ACC	OS9	-	NULL	ENSG00000135506		0.577	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	53	0.00	0	C	NM_006812		58088018	58088018	+1	no_errors	ENST00000315970	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	0.008	G
OTUD7A	161725	genome.wustl.edu	37	15	31947336	31947336	+	Silent	SNP	C	C	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr15:31947336C>T	ENST00000307050.4	-	1	206	c.114G>A	c.(112-114)acG>acA	p.T38T	OTUD7A_ENST00000382902.1_Silent_p.T38T	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	38					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTCTGCCCCCGTGGACCGAA	0.542																																						dbGAP											0													38.0	24.0	28.0					15																	31947336		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.114G>A	15.37:g.31947336C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWK5	Silent	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.T38	ENST00000307050.4	37	c.114	CCDS10026.1	15																																																																																			OTUD7A	-	superfamily_UBA-like	ENSG00000169918		0.542	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	90	0.00	0	C	NM_130901		31947336	31947336	-1	no_errors	ENST00000382902	ensembl	human	known	69_37n	silent	42	25.00	14	SNP	0.879	T
OXSM	54995	genome.wustl.edu	37	3	25833071	25833071	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr3:25833071delT	ENST00000280701.3	+	2	659	c.560delT	c.(559-561)atgfs	p.M187fs	OXSM_ENST00000420173.2_Frame_Shift_Del_p.M187fs|OXSM_ENST00000449808.1_Intron|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	187					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGTCAATATGGCAGCAGGC	0.423																																						dbGAP											0													68.0	73.0	72.0					3																	25833071		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.560delT	3.37:g.25833071delT	ENSP00000280701:p.Met187fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2	p.M187fs	ENST00000280701.3	37	c.560	CCDS2643.1	3																																																																																			OXSM	-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2	ENSG00000151093		0.423	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXSM	HGNC	protein_coding	OTTHUMT00000252876.2	55	0.00	0	T	NM_017897		25833071	25833071	+1	no_errors	ENST00000280701	ensembl	human	known	69_37n	frame_shift_del	29	30.23	13	DEL	1.000	-
PCDHB16	57717	genome.wustl.edu	37	5	140563853	140563853	+	Silent	SNP	T	T	C	rs111302655		TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr5:140563853T>C	ENST00000361016.2	+	1	2874	c.1719T>C	c.(1717-1719)acT>acC	p.T573T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	573	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T573T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACTGAGCTGGTGC	0.697																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											16.0	20.0	19.0					5																	140563853		1987	3954	5941	-	-	-	SO:0001819	synonymous_variant	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1719T>C	5.37:g.140563853T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T573	ENST00000361016.2	37	c.1719	CCDS4251.1	5																																																																																			PCDHB16	-	superfamily_Cadherin-like	ENSG00000196963		0.697	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	84	0.00	0	T	NM_020957		140563853	140563853	+1	no_errors	ENST00000361016	ensembl	human	known	69_37n	silent	53	15.87	10	SNP	0.897	C
PCLO	27445	genome.wustl.edu	37	7	82581718	82581718	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr7:82581718C>T	ENST00000333891.9	-	5	8888	c.8551G>A	c.(8551-8553)Gca>Aca	p.A2851T	PCLO_ENST00000423517.2_Missense_Mutation_p.A2851T|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTATTGGTGCTTCTTCCCTA	0.458																																						dbGAP											0													143.0	125.0	131.0					7																	82581718		1991	4158	6149	-	-	-	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8551G>A	7.37:g.82581718C>T	ENSP00000334319:p.Ala2851Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.A2851T	ENST00000333891.9	37	c.8551	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246771	0.22796	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19105	2.2;2.17	5.56	5.56	0.83823	.	.	.	.	.	T	0.20088	0.0483	N	0.25647	0.755	0.80722	D	1	B;B	0.20988	0.05;0.05	B;B	0.20955	0.032;0.032	T	0.03641	-1.1017	9	0.87932	D	0	.	19.5271	0.95210	0.0:1.0:0.0:0.0	.	2851;2851	Q9Y6V0-5;Q9Y6V0-6	.;.	T	2782;2851;2851	ENSP00000334319:A2851T;ENSP00000388393:A2851T	ENSP00000334319:A2851T	A	-	1	0	PCLO	82419654	0.999000	0.42202	1.000000	0.80357	0.529000	0.34654	4.481000	0.60250	2.605000	0.88082	0.563000	0.77884	GCA	PCLO	-	NULL	ENSG00000186472		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	108	0.00	0	C	NM_014510		82581718	82581718	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	81	26.36	29	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	69	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	1.000	A
RREB1	6239	genome.wustl.edu	37	6	7230726	7230726	+	Silent	SNP	G	G	C			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr6:7230726G>C	ENST00000349384.6	+	10	2708	c.2394G>C	c.(2392-2394)gcG>gcC	p.A798A	RREB1_ENST00000379933.3_Silent_p.A798A|RREB1_ENST00000334984.6_Silent_p.A798A|RREB1_ENST00000379938.2_Silent_p.A798A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	798					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAGCGCCGCGTTCGCGGCCA	0.697																																						dbGAP											0													10.0	9.0	9.0					6																	7230726		2092	4070	6162	-	-	-	SO:0001819	synonymous_variant	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2394G>C	6.37:g.7230726G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A798	ENST00000349384.6	37	c.2394	CCDS34336.1	6																																																																																			RREB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124782		0.697	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	9	0.00	0	G			7230726	7230726	+1	no_errors	ENST00000379938	ensembl	human	known	69_37n	silent	0	100.00	5	SNP	1.000	C
TOM1L2	146691	genome.wustl.edu	37	17	17786097	17786097	+	Silent	SNP	C	C	T			TCGA-AQ-A54O-01A-11D-A25Q-09	TCGA-AQ-A54O-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4481d7e-4544-4c76-be94-4cdc1ccce963	f1b073ac-cdeb-482f-bc59-1e8376aa7cc6	g.chr17:17786097C>T	ENST00000379504.3	-	6	665	c.582G>A	c.(580-582)tcG>tcA	p.S194S	TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000318094.10_Silent_p.S149S|TOM1L2_ENST00000395739.4_Silent_p.S149S|TOM1L2_ENST00000535933.1_Intron|TOM1L2_ENST00000581396.1_Silent_p.S144S	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	194					intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAGGAGGCGGCGAGGAATAGG	0.587																																					Melanoma(192;2505 2909 14455 25269)	dbGAP											0													172.0	135.0	147.0					17																	17786097		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.582G>A	17.37:g.17786097C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.S194	ENST00000379504.3	37	c.582	CCDS42270.1	17																																																																																			TOM1L2	-	pirsf_TOM1	ENSG00000175662		0.587	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOM1L2	HGNC	protein_coding	OTTHUMT00000131928.1	53	0.00	0	C			17786097	17786097	-1	no_errors	ENST00000379504	ensembl	human	known	69_37n	silent	11	47.62	10	SNP	0.025	T
