#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
ABCD1	215	genome.wustl.edu	37	X	153005554	153005554	+	Silent	SNP	A	A	G			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chrX:153005554A>G	ENST00000218104.3	+	6	1896	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	499	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGGAGGAAGGCATGCATC	0.647																																						dbGAP											0													94.0	81.0	85.0					X																	153005554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1497A>G	X.37:g.153005554A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTZ2	Missense_Mutation	SNP	NULL	p.K167R	ENST00000218104.3	37	c.500	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	A	1.787	-0.480541	0.04383	.	.	ENSG00000101986	ENST00000443684	.	.	.	4.83	-5.81	0.02340	.	.	.	.	.	T	0.47469	0.1447	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48139	-0.9061	4	.	.	.	-14.4142	6.8361	0.23937	0.582:0.0:0.3051:0.1129	.	.	.	.	R	167	.	.	K	+	2	0	ABCD1	152658748	0.026000	0.19158	0.854000	0.33618	0.192000	0.23643	-0.753000	0.04792	-1.135000	0.02895	-0.521000	0.04368	AAG	ABCD1	-	NULL	ENSG00000101986		0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	37	0.00	0	A	NM_000033		153005554	153005554	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443684	ensembl	human	known	69_37n	missense	48	18.64	11	SNP	0.886	G
AP3M1	26985	genome.wustl.edu	37	10	75885944	75885944	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr10:75885944G>C	ENST00000355264.4	-	7	1284	c.973C>G	c.(973-975)Ccc>Gcc	p.P325A	AP3M1_ENST00000372745.1_Missense_Mutation_p.P325A	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	325	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CCTTGTGTGGGTGTCAGGTTC	0.408																																						dbGAP											0													278.0	236.0	250.0					10																	75885944		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.973C>G	10.37:g.75885944G>C	ENSP00000347408:p.Pro325Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQ12|Q9H5L2	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.P325A	ENST00000355264.4	37	c.973	CCDS7342.1	10	.	.	.	.	.	.	.	.	.	.	G	1.202	-0.632296	0.03584	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.18502	2.21;2.21	5.62	4.72	0.59763	Clathrin adaptor, mu subunit, C-terminal (3);	0.117022	0.56097	D	0.000021	T	0.09423	0.0232	N	0.05280	-0.08	0.34378	D	0.692808	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.10660	-1.0620	10	0.28530	T	0.3	.	14.0757	0.64889	0.0:0.1429:0.7518:0.1053	.	271;325	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	A	325	ENSP00000347408:P325A;ENSP00000361831:P325A	ENSP00000347408:P325A	P	-	1	0	AP3M1	75555950	0.994000	0.37717	1.000000	0.80357	0.862000	0.49288	1.853000	0.39358	0.744000	0.32741	-0.824000	0.03097	CCC	AP3M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C	ENSG00000185009		0.408	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3M1	HGNC	protein_coding	OTTHUMT00000048747.1	89	0.00	0	G			75885944	75885944	-1	no_errors	ENST00000355264	ensembl	human	known	69_37n	missense	161	18.27	36	SNP	1.000	C
ARID3B	10620	genome.wustl.edu	37	15	74836605	74836605	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr15:74836605G>A	ENST00000346246.5	+	2	559	c.328G>A	c.(328-330)Gtg>Atg	p.V110M		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	110						nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						AGTTGCAGAGGTGGCTGAGAA	0.507																																						dbGAP											0													84.0	73.0	77.0					15																	74836605		2196	4296	6492	-	-	-	SO:0001583	missense	0				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.328G>A	15.37:g.74836605G>A	ENSP00000343126:p.Val110Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.V110M	ENST00000346246.5	37	c.328	CCDS10264.1	15	.	.	.	.	.	.	.	.	.	.	G	8.337	0.827791	0.16749	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.46063	0.88	5.23	2.99	0.34606	.	0.527299	0.18152	N	0.150059	T	0.28499	0.0705	L	0.29908	0.895	0.30512	N	0.769348	B;B;B	0.18741	0.017;0.013;0.03	B;B;B	0.18561	0.01;0.022;0.022	T	0.18713	-1.0328	10	0.42905	T	0.14	-7.3752	7.5542	0.27814	0.1735:0.1415:0.6849:0.0	.	110;110;110	Q8IVW6;Q8IVW6-4;B4DQB0	ARI3B_HUMAN;.;.	M	110	ENSP00000343126:V110M	ENSP00000343126:V110M	V	+	1	0	ARID3B	72623658	0.998000	0.40836	1.000000	0.80357	0.294000	0.27393	1.249000	0.32839	1.190000	0.43042	0.555000	0.69702	GTG	ARID3B	-	NULL	ENSG00000179361		0.507	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	HGNC	protein_coding	OTTHUMT00000280688.2	99	0.00	0	G	NM_006465		74836605	74836605	+1	no_errors	ENST00000346246	ensembl	human	known	69_37n	missense	184	11.11	23	SNP	0.986	A
BAZ2A	11176	genome.wustl.edu	37	12	56997461	56997461	+	Missense_Mutation	SNP	C	C	T	rs560947120	byFrequency	TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr12:56997461C>T	ENST00000551812.1	-	17	3261	c.3068G>A	c.(3067-3069)cGa>cAa	p.R1023Q	BAZ2A_ENST00000379441.3_Missense_Mutation_p.R993Q|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R991Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1021Q	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1023					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCGCCCAGTTCGCTTGGCCAG	0.537													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19937	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													56.0	55.0	55.0					12																	56997461		1964	4148	6112	-	-	-	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3068G>A	12.37:g.56997461C>T	ENSP00000446880:p.Arg1023Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R1023Q	ENST00000551812.1	37	c.3068	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.481476	0.96307	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.71103	-0.5;-0.5;-0.54;-0.54	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	T	0.81866	0.4913	M	0.65498	2.005	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.83003	-0.0176	10	0.59425	D	0.04	.	14.2689	0.66140	0.0:1.0:0.0:0.0	.	1021;1023	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	Q	993;991;1023;1021	ENSP00000368754:R993Q;ENSP00000179765:R991Q;ENSP00000446880:R1023Q;ENSP00000447941:R1021Q	ENSP00000179765:R991Q	R	-	2	0	BAZ2A	55283728	0.975000	0.34042	1.000000	0.80357	0.975000	0.68041	1.455000	0.35190	2.510000	0.84645	0.655000	0.94253	CGA	BAZ2A	-	NULL	ENSG00000076108		0.537	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	39	0.00	0	C	NM_013449		56997461	56997461	-1	no_errors	ENST00000551812	ensembl	human	known	69_37n	missense	74	26.73	27	SNP	1.000	T
COASY	80347	genome.wustl.edu	37	17	40715065	40715067	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr17:40715065_40715067delGCT	ENST00000393818.2	+	1	881_883	c.425_427delGCT	c.(424-429)agctgt>agt	p.C144del	COASY_ENST00000420359.1_In_Frame_Del_p.C144del|COASY_ENST00000421097.2_In_Frame_Del_p.C144del|COASY_ENST00000590958.1_In_Frame_Del_p.C173del|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000449624.1_5'UTR	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	144					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGCTGTTACAGCTGTTGTCCGCG	0.581																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.425_427delGCT	17.37:g.40715065_40715067delGCT	ENSP00000377406:p.Cys144del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	In_Frame_Del	DEL	pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase	p.C173in_frame_del	ENST00000393818.2	37	c.512_514	CCDS11429.1	17																																																																																			COASY	-	NULL	ENSG00000068120		0.581	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	27	0.00	0	GCT	NM_025233		40715065	40715067	+1	no_errors	ENST00000590958	ensembl	human	known	69_37n	in_frame_del	44	22.81	13	DEL	1.000:0.998:1.000	-
DCAF6	55827	genome.wustl.edu	37	1	168032951	168032951	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr1:168032951C>T	ENST00000312263.6	+	15	2324	c.2120C>T	c.(2119-2121)cCg>cTg	p.P707L	DCAF6_ENST00000367840.3_Missense_Mutation_p.P798L|DCAF6_ENST00000432587.2_Missense_Mutation_p.P767L|DCAF6_ENST00000367843.3_Missense_Mutation_p.P727L	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	707					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						ATTAGAAGGCCGCTAGTAAAA	0.408																																						dbGAP											0													85.0	84.0	84.0					1																	168032951		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2120C>T	1.37:g.168032951C>T	ENSP00000311949:p.Pro707Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.P798L	ENST00000312263.6	37	c.2393	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867171	0.72065	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.83837	-1.76;0.13;-1.77;-1.73	5.63	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.058738	0.64402	N	0.000001	T	0.81550	0.4846	M	0.62723	1.935	0.47009	D	0.999289	B;D;P;P;D	0.62365	0.315;0.991;0.756;0.802;0.991	B;P;P;B;P	0.59171	0.119;0.853;0.478;0.418;0.831	T	0.80289	-0.1445	9	0.13108	T	0.6	.	14.6603	0.68865	0.0:0.9302:0.0:0.0698	.	767;380;798;707;727	B4DNB8;Q9P0U0;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;.;DCAF6_HUMAN;.	L	727;767;707;798	ENSP00000356817:P727L;ENSP00000396238:P767L;ENSP00000311949:P707L;ENSP00000356814:P798L	ENSP00000311949:P707L	P	+	2	0	DCAF6	166299575	1.000000	0.71417	0.986000	0.45419	0.955000	0.61496	7.348000	0.79366	1.403000	0.46800	0.555000	0.69702	CCG	DCAF6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000143164		0.408	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	57	0.00	0	C	NM_018442		168032951	168032951	+1	no_errors	ENST00000367840	ensembl	human	known	69_37n	missense	128	15.23	23	SNP	1.000	T
DNM1P46	196968	genome.wustl.edu	37	15	100332799	100332799	+	RNA	SNP	A	A	C	rs11639102		TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr15:100332799A>C	ENST00000341853.1	-	0	1392				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CTGCTGGAGAAGATGTTGCGG	0.632																																						dbGAP											0													78.0	80.0	79.0					15																	100332799		876	1991	2867	-	-	-			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332799A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.632	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	33	0.00	0	A	NR_003260		100332799	100332799	-1	no_errors	ENST00000341853	ensembl	human	known	69_37n	rna	71	19.32	17	SNP	0.961	C
GCN1L1	10985	genome.wustl.edu	37	12	120593147	120593147	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr12:120593147C>A	ENST00000300648.6	-	30	3540	c.3528G>T	c.(3526-3528)agG>agT	p.R1176S	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1176					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCCTGCCTGCCTTACAGCCG	0.592																																						dbGAP											0													83.0	91.0	89.0					12																	120593147		2049	4196	6245	-	-	-	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3528G>T	12.37:g.120593147C>A	ENSP00000300648:p.Arg1176Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R1176S	ENST00000300648.6	37	c.3528	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826070	0.71143	.	.	ENSG00000089154	ENST00000300648	T	0.52057	0.68	5.56	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65407	0.2688	M	0.86268	2.805	0.80722	D	1	D	0.67145	0.996	D	0.63877	0.919	T	0.68918	-0.5282	10	0.87932	D	0	.	6.4681	0.21993	0.1492:0.6893:0.0:0.1615	.	1176	Q92616	GCN1L_HUMAN	S	1176	ENSP00000300648:R1176S	ENSP00000300648:R1176S	R	-	3	2	GCN1L1	119077530	0.839000	0.29477	1.000000	0.80357	0.853000	0.48598	-0.083000	0.11286	1.358000	0.45922	0.655000	0.94253	AGG	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	43	0.00	0	C			120593147	120593147	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	missense	94	27.13	35	SNP	0.998	A
HERC2P4	100289574	genome.wustl.edu	37	16	32191941	32191941	+	IGR	SNP	C	C	T	rs690041		TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr16:32191941C>T								HERC2P4 (9053 upstream) : RP11-17M15.1 (7712 downstream)																							GTATCCTTACCGCAAATGATG	0.517																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.32191941C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		16	.	.	.	.	.	.	.	.	.	.	.	10.42	1.345209	0.24426	.	.	ENSG00000230267	ENST00000433784	.	.	.	2.51	2.51	0.30379	.	.	.	.	.	T	0.15609	0.0376	.	.	.	.	.	.	.	.	.	.	.	.	T	0.35176	-0.9799	4	0.02654	T	1	.	5.9058	0.19001	0.0:0.1429:0.0:0.8571	.	.	.	.	S	89	.	ENSP00000402538:G89S	G	-	1	0	AC133485.1	32099442	1.000000	0.71417	0.809000	0.32408	0.036000	0.12997	2.673000	0.46858	0.211000	0.20683	-1.220000	0.01600	GGT	HERC2P4	-	-	ENSG00000230267	0	0.517					HERC2P4	HGNC			18	0.00	0	C			32191941	32191941	-1	no_errors	ENST00000566591	ensembl	human	known	69_37n	rna	23	25.81	8	SNP	1.000	T
IGSF9B	22997	genome.wustl.edu	37	11	133790479	133790479	+	Silent	SNP	G	G	A			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr11:133790479G>A	ENST00000321016.8	-	18	3371	c.3141C>T	c.(3139-3141)ttC>ttT	p.F1047F	IGSF9B_ENST00000533871.2_Silent_p.F1047F			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1047	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAGCCCCCCGAAGGGGAATT	0.657																																						dbGAP											0													43.0	51.0	48.0					11																	133790479		1928	4135	6063	-	-	-	SO:0001819	synonymous_variant	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3141C>T	11.37:g.133790479G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G5EA26	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F1047	ENST00000321016.8	37	c.3141		11																																																																																			IGSF9B	-	NULL	ENSG00000080854		0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		14	0.00	0	G	XM_290502		133790479	133790479	-1	no_errors	ENST00000321016	ensembl	human	known	69_37n	silent	13	23.53	4	SNP	0.819	A
IL27RA	9466	genome.wustl.edu	37	19	14150592	14150592	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr19:14150592C>G	ENST00000263379.2	+	4	529	c.404C>G	c.(403-405)cCt>cGt	p.P135R		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	135	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CGGCTGGGCCCTGACGTGGAC	0.617																																					Colon(164;1849 1896 4443 37792 47834)	dbGAP											0													53.0	58.0	56.0					19																	14150592		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.404C>G	19.37:g.14150592C>G	ENSP00000263379:p.Pro135Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0L1|O60624	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P135R	ENST00000263379.2	37	c.404	CCDS12303.1	19	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926309	0.52759	.	.	ENSG00000104998	ENST00000263379	T	0.61274	0.12	4.42	3.31	0.37934	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.299348	0.24497	N	0.038015	T	0.52996	0.1769	L	0.32530	0.975	0.09310	N	1	D	0.60160	0.987	P	0.57548	0.823	T	0.39333	-0.9619	10	0.11182	T	0.66	-22.666	9.1287	0.36833	0.2178:0.7822:0.0:0.0	.	135	Q6UWB1	I27RA_HUMAN	R	135	ENSP00000263379:P135R	ENSP00000263379:P135R	P	+	2	0	IL27RA	14011592	0.006000	0.16342	0.011000	0.14972	0.051000	0.14879	2.018000	0.40991	2.469000	0.83416	0.555000	0.69702	CCT	IL27RA	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000104998		0.617	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	15	0.00	0	C	NM_004843		14150592	14150592	+1	no_errors	ENST00000263379	ensembl	human	known	69_37n	missense	37	35.09	20	SNP	0.005	G
KCNK16	83795	genome.wustl.edu	37	6	39283076	39283076	+	Intron	SNP	G	G	A			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr6:39283076G>A	ENST00000373229.5	-	6	816				KCNK16_ENST00000425054.2_Missense_Mutation_p.P265S|KCNK16_ENST00000507712.1_Intron|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000373227.4_Intron|KCNK17_ENST00000373231.4_5'Flank	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCTGAGAGAGGCCAGACGTTC	0.567																																						dbGAP											0													97.0	101.0	100.0					6																	39283076		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.803-171C>T	6.37:g.39283076G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.P265S	ENST00000373229.5	37	c.793	CCDS4843.1	6	.	.	.	.	.	.	.	.	.	.	G	8.796	0.931688	0.18131	.	.	ENSG00000095981	ENST00000425054	T	0.18657	2.2	2.73	-0.214	0.13161	.	.	.	.	.	T	0.02304	0.0071	.	.	.	0.09310	N	1	B	0.32829	0.386	B	0.25140	0.058	T	0.42292	-0.9460	8	0.22706	T	0.39	.	1.2398	0.01960	0.1404:0.2211:0.4123:0.2262	.	265	Q96T55-4	.	S	265	ENSP00000391498:P265S	ENSP00000391498:P265S	P	-	1	0	KCNK16	39391054	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.063000	0.11655	-0.067000	0.12976	0.313000	0.20887	CCT	KCNK16	-	NULL	ENSG00000095981		0.567	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	60	0.00	0	G	NM_032115		39283076	39283076	-1	no_errors	ENST00000425054	ensembl	human	known	69_37n	missense	86	26.50	31	SNP	0.000	A
NEDD4L	23327	genome.wustl.edu	37	18	56018246	56018246	+	Silent	SNP	C	C	T			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr18:56018246C>T	ENST00000400345.3	+	18	1960	c.1677C>T	c.(1675-1677)caC>caT	p.H559H	NEDD4L_ENST00000256832.7_Silent_p.H418H|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Silent_p.H539H|NEDD4L_ENST00000456986.1_Silent_p.H438H|NEDD4L_ENST00000357895.5_Silent_p.H551H|NEDD4L_ENST00000435432.2_Silent_p.H418H|NEDD4L_ENST00000456173.2_Silent_p.H418H|NEDD4L_ENST00000586263.1_Silent_p.H531H|NEDD4L_ENST00000431212.2_Silent_p.H438H|NEDD4L_ENST00000356462.6_Silent_p.H495H|NEDD4L_ENST00000256830.9_Silent_p.H455H	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	559	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAAGAATTCACTTGGATGGCC	0.413																																						dbGAP											0													100.0	88.0	92.0					18																	56018246		1850	4086	5936	-	-	-	SO:0001819	synonymous_variant	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1677C>T	18.37:g.56018246C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom	p.H559	ENST00000400345.3	37	c.1677	CCDS45872.1	18																																																																																			NEDD4L	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	ENSG00000049759		0.413	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	57	0.00	0	C			56018246	56018246	+1	no_errors	ENST00000400345	ensembl	human	known	69_37n	silent	114	20.83	30	SNP	0.889	T
PER3	8863	genome.wustl.edu	37	1	7890055	7890055	+	Silent	SNP	T	T	A	rs11121034	byFrequency	TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr1:7890055T>A	ENST00000361923.2	+	18	3196	c.3021T>A	c.(3019-3021)gcT>gcA	p.A1007A	PER3_ENST00000377532.3_Silent_p.A1016A|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1007	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.		A -> T (in dbSNP:rs1776342).|Missing (associated with eveningness and better cognitive performance during sleep deprivation exepriments; dbSNP:rs57875989).		circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCAGCGCTCTGTCCACAG	0.587																																						dbGAP											0													90.0	71.0	77.0					1																	7890055		1995	3900	5895	-	-	-	SO:0001819	synonymous_variant	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3021T>A	1.37:g.7890055T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.A1007	ENST00000361923.2	37	c.3021	CCDS89.1	1																																																																																			PER3	-	pfam_Period_circadian-like_C	ENSG00000049246		0.587	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	17	0.00	0	T	NM_016831		7890055	7890055	+1	no_errors	ENST00000361923	ensembl	human	known	69_37n	silent	58	22.37	17	SNP	0.063	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	40	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	73	15.12	13	SNP	1.000	G
PKD1L1	168507	genome.wustl.edu	37	7	47969011	47969011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr7:47969011G>A	ENST00000289672.2	-	7	900	c.850C>T	c.(850-852)Cga>Tga	p.R284*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	284					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCAGAATTTCGAGCTAGGATG	0.537																																						dbGAP											0													85.0	93.0	90.0					7																	47969011		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.850C>T	7.37:g.47969011G>A	ENSP00000289672:p.Arg284*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWK1	Nonsense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like	p.R284*	ENST00000289672.2	37	c.850	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062090	0.76187	.	.	ENSG00000158683	ENST00000289672	.	.	.	3.98	-0.88	0.10610	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.628	7.5777	0.27946	0.0:0.4883:0.33:0.1817	.	.	.	.	X	284	.	ENSP00000289672:R284X	R	-	1	2	PKD1L1	47935536	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.322000	0.19576	0.040000	0.15660	0.585000	0.79938	CGA	PKD1L1	-	NULL	ENSG00000158683		0.537	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	59	0.00	0	G	NM_138295		47969011	47969011	-1	no_errors	ENST00000289672	ensembl	human	known	69_37n	nonsense	118	19.18	28	SNP	0.000	A
RP1L1	94137	genome.wustl.edu	37	8	10469694	10469696	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr8:10469694_10469696delCTG	ENST00000382483.3	-	4	2135_2137	c.1912_1914delCAG	c.(1912-1914)cagdel	p.Q638del		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	638					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGTGCCTTCTCTGCCCCTGCTGG	0.64																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1912_1914delCAG	8.37:g.10469694_10469696delCTG	ENSP00000371923:p.Gln638del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q638in_frame_del	ENST00000382483.3	37	c.1914_1912	CCDS43708.1	8																																																																																			RP1L1	-	NULL	ENSG00000183638		0.640	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	14	0.00	0	CTG			10469694	10469696	-1	no_errors	ENST00000382483	ensembl	human	known	69_37n	in_frame_del	10	31.25	5	DEL	0.000:0.000:0.000	-
SERPINB8	5271	genome.wustl.edu	37	18	61650836	61650836	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr18:61650836G>A	ENST00000397985.2	+	5	704	c.448G>A	c.(448-450)Gct>Act	p.A150T	SERPINB8_ENST00000542677.1_De_novo_Start_OutOfFrame|SERPINB8_ENST00000397988.3_Missense_Mutation_p.A150T|SERPINB8_ENST00000353706.2_Missense_Mutation_p.A150T	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	150					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GGTACTGGATGCTGGGACAGT	0.388																																						dbGAP											0													121.0	114.0	116.0					18																	61650836		2203	4300	6503	-	-	-	SO:0001583	missense	0			L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.448G>A	18.37:g.61650836G>A	ENSP00000381072:p.Ala150Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.A150T	ENST00000397985.2	37	c.448	CCDS11991.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.984|2.984	-0.209747|-0.209747	0.06140|0.06140	.|.	.|.	ENSG00000166401|ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000441827|ENST00000295211	D;D;D;D|.	0.84660|.	-1.88;-1.88;-1.88;-1.88|.	5.65|5.65	0.281|0.281	0.15687|0.15687	Serpin domain (3);|.	1.013720|.	0.07848|.	N|.	0.964183|.	T|T	0.33147|0.33147	0.0853|0.0853	L|L	0.43923|0.43923	1.385|1.385	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.13407|.	0.005;0.009|.	T|T	0.28138|0.28138	-1.0053|-1.0053	10|5	0.33940|.	T|.	0.23|.	.|.	3.5277|3.5277	0.07765|0.07765	0.2001:0.3805:0.3193:0.1|0.2001:0.3805:0.3193:0.1	.|.	150;150|.	P50452;Q8N178|.	SPB8_HUMAN;.|.	T|I	150|91	ENSP00000381072:A150T;ENSP00000331368:A150T;ENSP00000381075:A150T;ENSP00000393456:A150T|.	ENSP00000331368:A150T|.	A|M	+|+	1|3	0|0	SERPINB8|SERPINB8	59801816|59801816	0.000000|0.000000	0.05858|0.05858	0.016000|0.016000	0.15963|0.15963	0.039000|0.039000	0.13416|0.13416	-0.426000|-0.426000	0.07008|0.07008	0.135000|0.135000	0.18707|0.18707	0.655000|0.655000	0.94253|0.94253	GCT|ATG	SERPINB8	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000166401		0.388	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB8	HGNC	protein_coding	OTTHUMT00000134014.1	35	0.00	0	G	NM_001031848		61650836	61650836	+1	no_errors	ENST00000353706	ensembl	human	known	69_37n	missense	74	25.25	25	SNP	0.000	A
TMEM26	219623	genome.wustl.edu	37	10	63191081	63191081	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr10:63191081T>C	ENST00000399298.3	-	3	648	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	TMEM26_ENST00000399293.1_Missense_Mutation_p.I94V	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	94						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TCAGCCTGGATACTGCAATAC	0.373																																						dbGAP											0													193.0	176.0	181.0					10																	63191081		1880	4107	5987	-	-	-	SO:0001583	missense	0			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.280A>G	10.37:g.63191081T>C	ENSP00000382237:p.Ile94Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	pfam_Transmembrane_26	p.I94V	ENST00000399298.3	37	c.280	CCDS41530.1	10	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.877447	0.00537	.	.	ENSG00000196932	ENST00000399298;ENST00000277749;ENST00000399293	.	.	.	5.46	-0.92	0.10475	.	0.833540	0.11323	N	0.575843	T	0.10252	0.0251	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31364	-0.9946	9	0.02654	T	1	-33.6888	4.4114	0.11434	0.141:0.2968:0.0:0.5622	.	94	Q6ZUK4	TMM26_HUMAN	V	94;4;94	.	ENSP00000277749:I4V	I	-	1	0	TMEM26	62861087	0.000000	0.05858	0.012000	0.15200	0.046000	0.14306	-0.169000	0.09911	-0.427000	0.07350	-1.134000	0.01955	ATC	TMEM26	-	pfam_Transmembrane_26	ENSG00000196932		0.373	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM26	HGNC	protein_coding	OTTHUMT00000359121.1	89	0.00	0	T	NM_178505		63191081	63191081	-1	no_errors	ENST00000399298	ensembl	human	known	69_37n	missense	193	23.41	59	SNP	0.034	C
TPPP2	122664	genome.wustl.edu	37	14	21500170	21500170	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1L6-01A-11D-A13L-09	TCGA-E2-A1L6-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f610239f-5610-4d7b-bc31-ae3ccb9c425d	3388c646-ffac-43bf-b8a6-c5f216b17af0	g.chr14:21500170G>A	ENST00000321760.6	+	4	595	c.447G>A	c.(445-447)atG>atA	p.M149I	TPPP2_ENST00000530140.2_Missense_Mutation_p.M149I|RP11-998D10.1_ENST00000531638.1_5'Flank|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	149						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGGAAGAGATGACTGACAACA	0.547																																						dbGAP											0													214.0	160.0	179.0					14																	21500170		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.447G>A	14.37:g.21500170G>A	ENSP00000317595:p.Met149Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2VYF3	Missense_Mutation	SNP	pfam_P25-alpha	p.M149I	ENST00000321760.6	37	c.447	CCDS9566.1	14	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.977848	0.00452	.	.	ENSG00000179636	ENST00000321760;ENST00000530140	T;T	0.38560	1.13;1.13	4.71	-0.75	0.11080	.	1.011480	0.07926	N	0.976729	T	0.08403	0.0209	N	0.00332	-1.63	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31024	-0.9958	10	0.06625	T	0.88	0.3334	0.7884	0.01053	0.3879:0.1702:0.2809:0.161	.	149	P59282	TPPP2_HUMAN	I	149	ENSP00000317595:M149I;ENSP00000435356:M149I	ENSP00000317595:M149I	M	+	3	0	TPPP2	20570010	0.000000	0.05858	0.016000	0.15963	0.015000	0.08874	0.031000	0.13710	-0.021000	0.14009	-0.150000	0.13652	ATG	TPPP2	-	pfam_P25-alpha	ENSG00000179636		0.547	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPPP2	HGNC	protein_coding	OTTHUMT00000073914.3	43	0.00	0	G	NM_173846		21500170	21500170	+1	no_errors	ENST00000321760	ensembl	human	known	69_37n	missense	106	19.55	26	SNP	0.001	A
