#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AKAP8	10270	genome.wustl.edu	37	19	15484018	15484019	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr19:15484018_15484019insC	ENST00000269701.2	-	5	564_565	c.504_505insG	c.(502-507)gggcagfs	p.Q169fs		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	169					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TCACTGTACTGCCCCCCAAAGC	0.678																																					GBM(190;1671 2163 3274 27186 30476)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.505dupG	19.37:g.15484024_15484024dupC	ENSP00000269701:p.Gln169fs			Frame_Shift_Ins	INS	pfam_AKAP95	p.Q168fs	ENST00000269701.2	37	c.505_504	CCDS12329.1	19																																																																																			AKAP8	-	NULL	ENSG00000105127		0.678	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8	HGNC	protein_coding	OTTHUMT00000461293.3	44	0.00	0	-	NM_005858		15484018	15484019	-1	no_errors	ENST00000269701	ensembl	human	known	69_37n	frame_shift_ins	18	18.18	4	INS	0.986:0.890	C
ARHGAP26	23092	genome.wustl.edu	37	5	142513639	142513639	+	Silent	SNP	G	G	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr5:142513639G>A	ENST00000274498.4	+	19	2184	c.1806G>A	c.(1804-1806)acG>acA	p.T602T	ARHGAP26_ENST00000378004.3_Silent_p.T602T	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	602	Ser-rich.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCCCTGACGCTCTTCCACA	0.597																																						dbGAP											0													126.0	106.0	113.0					5																	142513639		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1806G>A	5.37:g.142513639G>A			O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R221H	ENST00000274498.4	37	c.662	CCDS4277.1	5	.	.	.	.	.	.	.	.	.	.	G	9.669	1.146213	0.21288	.	.	ENSG00000145819	ENST00000443674;ENST00000418236	.	.	.	5.95	-7.24	0.01475	.	.	.	.	.	T	0.37571	0.1008	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39210	-0.9625	4	.	.	.	.	3.5373	0.07798	0.4844:0.0833:0.2634:0.1689	.	.	.	.	H	221;174	.	.	R	+	2	0	ARHGAP26	142493832	0.022000	0.18835	0.508000	0.27688	0.850000	0.48378	-1.388000	0.02533	-1.733000	0.01357	-0.137000	0.14449	CGC	ARHGAP26	-	NULL	ENSG00000145819		0.597	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP26	HGNC	protein_coding	OTTHUMT00000132744.3	163	0.61	1	G	NM_015071		142513639	142513639	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443674	ensembl	human	novel	69_37n	missense	63	20.00	16	SNP	0.358	A
ARID1A	8289	genome.wustl.edu	37	1	27087880	27087880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr1:27087880C>T	ENST00000324856.7	+	6	2538	c.2167C>T	c.(2167-2169)Cag>Tag	p.Q723*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q723*|RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q340*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	723					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q723*(2)|p.N722fs*18(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCAGGCAACCAGATGCCACC	0.498			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	3	Substitution - Nonsense(2)|Deletion - Frameshift(1)	ovary(1)|large_intestine(1)|breast(1)											78.0	73.0	75.0					1																	27087880		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2167C>T	1.37:g.27087880C>T	ENSP00000320485:p.Gln723*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q723*	ENST00000324856.7	37	c.2167	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.398777	0.98258	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.33	5.33	0.75918	.	0.247263	0.42294	D	0.000725	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-6.6748	19.2079	0.93742	0.0:1.0:0.0:0.0	.	.	.	.	X	723;723;340	.	ENSP00000320485:Q723X	Q	+	1	0	ARID1A	26960467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.586000	0.67503	2.768000	0.95171	0.655000	0.94253	CAG	ARID1A	-	NULL	ENSG00000117713		0.498	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	105	0.00	0	C	NM_139135		27087880	27087880	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	nonsense	22	46.34	19	SNP	1.000	T
ATP6V1B1	525	genome.wustl.edu	37	2	71191572	71191573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr2:71191572_71191573insC	ENST00000234396.4	+	12	1221_1222	c.1148_1149insC	c.(1147-1152)taccccfs	p.YP383fs	AC007040.11_ENST00000606025.1_Intron|RN7SL160P_ENST00000468558.2_RNA|ATP6V1B1_ENST00000412314.1_Frame_Shift_Ins_p.YP366fs	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CCTCAGATCTACCCCCCCATCA	0.545											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1155dupC	2.37:g.71191579_71191579dupC	ENSP00000234396:p.Tyr383fs	1128	Q53FY0|Q6P4H6	Frame_Shift_Ins	INS	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.I386fs	ENST00000234396.4	37	c.1148_1149	CCDS1912.1	2																																																																																			ATP6V1B1	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_bsu	ENSG00000116039		0.545	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B1	HGNC	protein_coding	OTTHUMT00000251920.2	105	0.00	0	-	NM_001692		71191572	71191573	+1	no_errors	ENST00000234396	ensembl	human	known	69_37n	frame_shift_ins	38	11.63	5	INS	1.000:0.999	C
CAPRIN1	4076	genome.wustl.edu	37	11	34093289	34093289	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr11:34093289A>G	ENST00000341394.4	+	3	422	c.233A>G	c.(232-234)tAc>tGc	p.Y78C	CAPRIN1_ENST00000389645.3_Missense_Mutation_p.Y78C|CAPRIN1_ENST00000529307.1_5'UTR|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.Y78C|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.Y78C	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	78					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y78C(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				CTTGATGATTACCAGGAACGA	0.333																																						dbGAP											2	Substitution - Missense(2)	breast(2)											98.0	106.0	103.0					11																	34093289		2202	4298	6500	-	-	-	SO:0001583	missense	0			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.233A>G	11.37:g.34093289A>G	ENSP00000340329:p.Tyr78Cys		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	pfam_Caprin-1_C	p.Y78C	ENST00000341394.4	37	c.233	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155176	0.57259	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000534825;ENST00000532820;ENST00000530820	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.75	5.75	0.90469	.	0.054394	0.85682	D	0.000000	T	0.40886	0.1135	M	0.81942	2.565	0.80722	D	1	B;B	0.18610	0.017;0.029	B;B	0.18871	0.014;0.023	T	0.35624	-0.9781	10	0.87932	D	0	.	16.0478	0.80731	1.0:0.0:0.0:0.0	.	78;78	Q14444;Q14444-2	CAPR1_HUMAN;.	C	78	ENSP00000340329:Y78C;ENSP00000374296:Y78C;ENSP00000431373:Y78C;ENSP00000434150:Y78C;ENSP00000434204:Y78C	ENSP00000340329:Y78C	Y	+	2	0	CAPRIN1	34049865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.867000	0.92314	2.192000	0.70111	0.460000	0.39030	TAC	CAPRIN1	-	NULL	ENSG00000135387		0.333	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	225	0.00	0	A	NM_005898		34093289	34093289	+1	no_errors	ENST00000341394	ensembl	human	known	69_37n	missense	142	49.11	138	SNP	1.000	G
CCDC3	83643	genome.wustl.edu	37	10	12940472	12940472	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr10:12940472C>T	ENST00000378825.3	-	3	883	c.757G>A	c.(757-759)Gcg>Acg	p.A253T	CCDC3_ENST00000378839.1_Missense_Mutation_p.A128T	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	253						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TGCGGCAGCGCGCCCGCCGCC	0.687																																						dbGAP											0													28.0	32.0	31.0					10																	12940472		2201	4299	6500	-	-	-	SO:0001583	missense	0			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.757G>A	10.37:g.12940472C>T	ENSP00000368102:p.Ala253Thr		Q5VYV8|Q5VYV9	Missense_Mutation	SNP	NULL	p.A253T	ENST00000378825.3	37	c.757	CCDS7093.1	10	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858703	0.51376	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	4.88	1.99	0.26369	.	0.832849	0.10655	N	0.649380	T	0.29423	0.0733	L	0.44542	1.39	0.09310	N	1	B	0.30709	0.291	B	0.21360	0.034	T	0.15607	-1.0431	9	0.33141	T	0.24	-1.5668	5.6396	0.17557	0.0:0.3563:0.4179:0.2258	.	253	Q9BQI4	CCDC3_HUMAN	T	128;253	.	ENSP00000368102:A253T	A	-	1	0	CCDC3	12980478	0.000000	0.05858	0.000000	0.03702	0.472000	0.32918	-0.208000	0.09371	0.133000	0.18654	0.561000	0.74099	GCG	CCDC3	-	NULL	ENSG00000151468		0.687	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC3	HGNC	protein_coding	OTTHUMT00000046829.1	30	0.00	0	C	NM_031455		12940472	12940472	-1	no_errors	ENST00000378825	ensembl	human	known	69_37n	missense	2	71.43	5	SNP	0.003	T
CEP55	55165	genome.wustl.edu	37	10	95287850	95287851	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr10:95287850_95287851insC	ENST00000371485.3	+	9	1639_1640	c.1335_1336insC	c.(1336-1338)cagfs	p.Q446fs		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	446	Required for localization to the interphase centrosome and to the midbody during cytokinesis.				establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AGTGCAATATACAGTATCCAGC	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.1336dupC	10.37:g.95287851_95287851dupC	ENSP00000360540:p.Gln446fs		B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Frame_Shift_Ins	INS	pfam_EABR	p.Q445fs	ENST00000371485.3	37	c.1335_1336	CCDS7428.1	10																																																																																			CEP55	-	NULL	ENSG00000138180		0.416	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP55	HGNC	protein_coding	OTTHUMT00000049434.1	257	0.00	0	-	NM_018131		95287850	95287851	+1	no_errors	ENST00000371485	ensembl	human	known	69_37n	frame_shift_ins	117	27.78	45	INS	0.000:0.969	C
CHKB	1120	genome.wustl.edu	37	22	51018484	51018484	+	Silent	SNP	A	A	G			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr22:51018484A>G	ENST00000406938.2	-	8	1063	c.846T>C	c.(844-846)tgT>tgC	p.C282C	CHKB-AS1_ENST00000380711.3_RNA|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CHKB_ENST00000463053.1_5'Flank|CPT1B_ENST00000360719.2_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank|CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000405237.3_5'Flank|CPT1B_ENST00000395650.2_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	282					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)	p.C282C(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	AAACCCACTCACAAAAATGGT	0.512																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											82.0	89.0	86.0					22																	51018484		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.846T>C	22.37:g.51018484A>G			A0PJM6|Q13388	Splice_Site	SNP	-	NULL	ENST00000406938.2	37	c.NULL	CCDS14099.1	22																																																																																			CHKB	-	-	ENSG00000100288		0.512	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHKB	HGNC	protein_coding	OTTHUMT00000317267.3	49	0.00	0	A	NM_005198		51018484	51018484	-1	no_errors	ENST00000471515	ensembl	human	known	69_37n	splice_site	13	50.00	13	SNP	1.000	G
CNOT8	9337	genome.wustl.edu	37	5	154254920	154254920	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr5:154254920C>T	ENST00000517876.1	+	8	1276	c.800C>T	c.(799-801)gCc>gTc	p.A267V	CNOT8_ENST00000521450.1_Missense_Mutation_p.A161V|CNOT8_ENST00000524105.1_Missense_Mutation_p.A103V|CNOT8_ENST00000519404.1_Missense_Mutation_p.A213V|CNOT8_ENST00000403027.2_Missense_Mutation_p.A267V|CNOT8_ENST00000521583.1_Missense_Mutation_p.A161V|CNOT8_ENST00000523698.1_Missense_Mutation_p.A161V|CNOT8_ENST00000285896.6_Missense_Mutation_p.A267V|CNOT8_ENST00000520671.1_Missense_Mutation_p.A161V			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	267					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A267V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAGGAGTGGCCCAGAAGCAG	0.532																																					NSCLC(140;1804 1895 27149 29895 35312)	dbGAP											1	Substitution - Missense(1)	breast(1)											142.0	118.0	126.0					5																	154254920		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.800C>T	5.37:g.154254920C>T	ENSP00000430493:p.Ala267Val		B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Missense_Mutation	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.A267V	ENST00000517876.1	37	c.800	CCDS4329.1	5	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088938	0.36855	.	.	ENSG00000155508	ENST00000523698;ENST00000517876;ENST00000521450;ENST00000403027;ENST00000524105;ENST00000285896;ENST00000542339;ENST00000520671;ENST00000521583;ENST00000519404;ENST00000518775	T;T;T;T;T	0.46451	0.9;0.9;0.9;0.87;0.89	5.47	4.61	0.57282	Ribonuclease H-like (1);	0.217668	0.47852	N	0.000214	T	0.16514	0.0397	N	0.01352	-0.895	0.37122	D	0.900861	B;B	0.11235	0.0;0.004	B;B	0.08055	0.0;0.003	T	0.11084	-1.0602	10	0.19590	T	0.45	-4.2282	12.6345	0.56675	0.0:0.9236:0.0:0.0764	.	213;267	B7Z8R1;Q9UFF9	.;CNOT8_HUMAN	V	161;267;161;267;103;267;244;161;161;213;213	ENSP00000430493:A267V;ENSP00000384747:A267V;ENSP00000285896:A267V;ENSP00000430833:A213V;ENSP00000429394:A213V	ENSP00000285896:A267V	A	+	2	0	CNOT8	154235113	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	2.701000	0.47094	1.445000	0.47624	0.643000	0.83706	GCC	CNOT8	-	superfamily_RNaseH-like_dom	ENSG00000155508		0.532	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNOT8	HGNC	protein_coding	OTTHUMT00000377449.1	397	0.00	0	C	NM_004779		154254920	154254920	+1	no_errors	ENST00000285896	ensembl	human	known	69_37n	missense	112	48.20	107	SNP	1.000	T
CNTN4	152330	genome.wustl.edu	37	3	2787338	2787338	+	Silent	SNP	G	G	C	rs116041691	byFrequency	TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr3:2787338G>C	ENST00000397461.1	+	5	699	c.315G>C	c.(313-315)tcG>tcC	p.S105S	CNTN4_ENST00000427331.1_Silent_p.S105S|CNTN4_ENST00000418658.1_Silent_p.S105S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	105	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CGACAAACTCGTTTGGAACAA	0.408																																						dbGAP											0													146.0	137.0	140.0					3																	2787338		1941	4138	6079	-	-	-	SO:0001819	synonymous_variant	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.315G>C	3.37:g.2787338G>C			B2RAX3|Q8IX14|Q8TC35	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S105	ENST00000397461.1	37	c.315	CCDS43041.1	3																																																																																			CNTN4	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000144619		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	461	0.00	0	G			2787338	2787338	+1	no_errors	ENST00000397461	ensembl	human	known	69_37n	silent	82	42.25	60	SNP	0.004	C
CRTC2	200186	genome.wustl.edu	37	1	153925831	153925831	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr1:153925831G>C	ENST00000368633.1	-	6	645	c.518C>G	c.(517-519)tCt>tGt	p.S173C	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	173					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.S173C(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATGAAGGGCAGAGTCAGAGCT	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											66.0	66.0	66.0					1																	153925831		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.518C>G	1.37:g.153925831G>C	ENSP00000357622:p.Ser173Cys		Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	NULL	p.S173C	ENST00000368633.1	37	c.518	CCDS30875.1	1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606914	0.66558	.	.	ENSG00000160741	ENST00000368633	T	0.62788	-0.0	4.56	3.61	0.41365	Transducer of regulated CREB activity, middle domain (1);	0.144829	0.47455	D	0.000222	T	0.71558	0.3354	M	0.79011	2.435	0.36266	D	0.854854	D	0.89917	1.0	D	0.87578	0.998	T	0.77661	-0.2504	10	0.87932	D	0	-9.6629	12.4048	0.55432	0.0:0.1712:0.8288:0.0	.	173	Q53ET0	CRTC2_HUMAN	C	173	ENSP00000357622:S173C	ENSP00000357622:S173C	S	-	2	0	CRTC2	152192455	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.833000	0.75334	1.237000	0.43756	0.455000	0.32223	TCT	CRTC2	-	NULL	ENSG00000160741		0.597	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC2	HGNC	protein_coding	OTTHUMT00000090272.3	304	0.33	1	G	NM_181715		153925831	153925831	-1	no_errors	ENST00000368633	ensembl	human	known	69_37n	missense	52	50.00	52	SNP	1.000	C
DNAJC22	79962	genome.wustl.edu	37	12	49742746	49742746	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr12:49742746G>A	ENST00000549441.2	+	3	1295	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	DNAJC22_ENST00000395069.3_Missense_Mutation_p.A31T			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	31						integral component of membrane (GO:0016021)		p.A31T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GGACAGCCACGCCCTGCTCTG	0.667																																						dbGAP											2	Substitution - Missense(2)	breast(2)											36.0	44.0	41.0					12																	49742746		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.91G>A	12.37:g.49742746G>A	ENSP00000446830:p.Ala31Thr		B3KP54	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_TM2,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.A31T	ENST00000549441.2	37	c.91	CCDS8785.1	12	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024589	0.93518	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.60797	0.16;0.16	4.91	4.91	0.64330	TM2 (1);	0.000000	0.85682	D	0.000000	T	0.80824	0.4697	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85323	0.1085	10	0.87932	D	0	-10.7001	17.2967	0.87172	0.0:0.0:1.0:0.0	.	31	Q8N4W6	DJC22_HUMAN	T	31	ENSP00000446830:A31T;ENSP00000378508:A31T	ENSP00000378508:A31T	A	+	1	0	DNAJC22	48029013	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	9.060000	0.93907	2.452000	0.82932	0.556000	0.70494	GCC	DNAJC22	-	pfam_TM2	ENSG00000178401		0.667	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DNAJC22	HGNC	protein_coding	OTTHUMT00000404302.2	92	0.00	0	G	NM_024902		49742746	49742746	+1	no_errors	ENST00000395069	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	1.000	A
EOMES	8320	genome.wustl.edu	37	3	27761733	27761733	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr3:27761733G>A	ENST00000295743.4	-	2	1168	c.965C>T	c.(964-966)gCg>gTg	p.A322V	EOMES_ENST00000449599.1_Missense_Mutation_p.A322V|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000537516.1_Missense_Mutation_p.A27V			O95936	EOMES_HUMAN	eomesodermin	322					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A322V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GTTGGGGTCCGCCAGCACCAC	0.562																																						dbGAP											1	Substitution - Missense(1)	breast(1)											120.0	126.0	124.0					3																	27761733		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.965C>T	3.37:g.27761733G>A	ENSP00000295743:p.Ala322Val		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.A322V	ENST00000295743.4	37	c.965	CCDS2646.1	3	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598191	0.46318	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	T;T;T	0.79033	-1.23;-1.23;-1.23	4.74	3.84	0.44239	p53-like transcription factor, DNA-binding (1);	0.050768	0.85682	D	0.000000	T	0.76321	0.3971	N	0.16233	0.39	0.80722	D	1	P;D;D;D	0.89917	0.709;0.996;1.0;1.0	B;B;D;D	0.72625	0.081;0.325;0.963;0.978	T	0.72037	-0.4411	10	0.21014	T	0.42	.	13.4579	0.61210	0.0777:0.0:0.9223:0.0	.	36;322;322;322	B7Z4I2;F5H3K1;G3XAI5;O95936	.;.;.;EOMES_HUMAN	V	322;322;27;187	ENSP00000295743:A322V;ENSP00000388620:A322V;ENSP00000442097:A27V	ENSP00000295743:A322V	A	-	2	0	EOMES	27736737	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	7.734000	0.84928	2.449000	0.82847	0.563000	0.77884	GCG	EOMES	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000163508		0.562	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1	209	0.00	0	G	NM_005442		27761733	27761733	-1	no_errors	ENST00000449599	ensembl	human	known	69_37n	missense	53	46.53	47	SNP	0.999	A
FAM179B	23116	genome.wustl.edu	37	14	45431981	45431982	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr14:45431981_45431982insG	ENST00000361577.3	+	1	571_572	c.357_358insG	c.(358-360)ttgfs	p.L120fs	KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000382233.2_Frame_Shift_Ins_p.L120fs|FAM179B_ENST00000361462.2_Frame_Shift_Ins_p.L120fs|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	120										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGCAAGCTGCTTTGCCGCGGCG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	Exception_encountered	14.37:g.45431981_45431982insG	ENSP00000355045:p.Leu120fs		Q68D66|Q6PG27	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.L119fs	ENST00000361577.3	37	c.357_358	CCDS9681.1	14																																																																																			FAM179B	-	NULL	ENSG00000198718		0.619	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	55	0.00	0	-	XM_113781		45431981	45431982	+1	no_errors	ENST00000361577	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.994:0.995	G
FAM63A	55793	genome.wustl.edu	37	1	150973769	150973769	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr1:150973769T>A	ENST00000361936.5	-	5	1487	c.533A>T	c.(532-534)aAg>aTg	p.K178M	FAM63A_ENST00000361738.6_Missense_Mutation_p.K226M|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000493834.2_Missense_Mutation_p.K83M|FAM63A_ENST00000312210.5_Missense_Mutation_p.K36M	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	178						extracellular vesicular exosome (GO:0070062)		p.K178M(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCCTGGGGCTTGATGGACAG	0.507																																						dbGAP											1	Substitution - Missense(1)	breast(1)											117.0	114.0	115.0					1																	150973769		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.533A>T	1.37:g.150973769T>A	ENSP00000354814:p.Lys178Met		B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	pfam_DUF544	p.K226M	ENST00000361936.5	37	c.677	CCDS976.1	1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.448187	0.43429	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.48201	0.82;0.86;0.84;0.88	5.43	3.12	0.35913	.	0.328651	0.34268	N	0.004116	T	0.19046	0.0457	L	0.31420	0.93	0.38288	D	0.942619	B;B	0.19073	0.004;0.033	B;B	0.30029	0.023;0.11	T	0.04029	-1.0983	10	0.37606	T	0.19	-24.5084	8.4582	0.32912	0.0:0.1597:0.0:0.8403	.	226;178	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	M	36;178;226;83	ENSP00000310923:K36M;ENSP00000354814:K178M;ENSP00000354669:K226M;ENSP00000437174:K83M	ENSP00000310923:K36M	K	-	2	0	FAM63A	149240393	0.820000	0.29190	0.999000	0.59377	0.676000	0.39594	1.098000	0.31000	0.500000	0.27991	-0.280000	0.10049	AAG	FAM63A	-	pfam_DUF544	ENSG00000143409		0.507	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	128	0.00	0	T	NM_018379		150973769	150973769	-1	no_errors	ENST00000361738	ensembl	human	known	69_37n	missense	38	35.59	21	SNP	1.000	A
FGF23	8074	genome.wustl.edu	37	12	4479710	4479710	+	Silent	SNP	C	C	T	rs115283398	byFrequency	TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr12:4479710C>T	ENST00000237837.1	-	3	700	c.555G>A	c.(553-555)tcG>tcA	p.S185S		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	185					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGTCCCGCTCCGAGTCGTCCT	0.687																																						dbGAP											0													23.0	27.0	26.0					12																	4479710		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.555G>A	12.37:g.4479710C>T			Q4V758	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.S185	ENST00000237837.1	37	c.555	CCDS8526.1	12																																																																																			FGF23	-	NULL	ENSG00000118972		0.687	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1	88	0.00	0	C			4479710	4479710	-1	no_errors	ENST00000237837	ensembl	human	known	69_37n	silent	17	41.38	12	SNP	0.000	T
MROH5	389690	genome.wustl.edu	37	8	142458155	142458155	+	RNA	SNP	G	G	A	rs530711909	byFrequency	TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr8:142458155G>A	ENST00000430863.1	-	0	2751				SNORD5_ENST00000458800.1_RNA	NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5									p.R891W(1)									TTGAACTCCCGGGCAAACTGC	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		19720	0.002		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											28.0	32.0	31.0					8																	142458155		2034	4178	6212	-	-	-			0					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142458155G>A				Missense_Mutation	SNP	NULL	p.R891W	ENST00000430863.1	37	c.2671		8																																																																																			AC100803.1	-	NULL	ENSG00000226807		0.652	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	FLJ43860	Clone_based_vega_gene	polymorphic_pseudogene	OTTHUMT00000342412.4	47	0.00	0	G	NM_207414		142458155	142458155	-1	pseudogene	ENST00000430863	ensembl	human	known	69_37n	missense	8	72.41	21	SNP	0.003	A
FOLH1	2346	genome.wustl.edu	37	11	49192781	49192781	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr11:49192781T>A	ENST00000256999.2	-	11	1534	c.1274A>T	c.(1273-1275)gAa>gTa	p.E425V	FOLH1_ENST00000343844.4_Missense_Mutation_p.E117V|FOLH1_ENST00000356696.3_Missense_Mutation_p.E425V|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000533034.1_Missense_Mutation_p.E410V|FOLH1_ENST00000340334.7_Missense_Mutation_p.E410V	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	425	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.E425V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AAGACCAAATTCTTCTGCATC	0.323																																						dbGAP											1	Substitution - Missense(1)	breast(1)											32.0	34.0	34.0					11																	49192781		2191	4278	6469	-	-	-	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1274A>T	11.37:g.49192781T>A	ENSP00000256999:p.Glu425Val		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.E425V	ENST00000256999.2	37	c.1274	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	T	19.93	3.918780	0.73098	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	4.21	4.21	0.49690	Peptidase M28 (1);	0.000000	0.64402	D	0.000017	D	0.92459	0.7606	H	0.99074	4.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94168	0.7420	10	0.87932	D	0	.	11.2691	0.49127	0.0:0.0:0.0:1.0	.	410;410;425;425	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	V	425;425;410;117;410;428	ENSP00000256999:E425V;ENSP00000349129:E425V;ENSP00000344131:E410V;ENSP00000344086:E117V;ENSP00000431463:E410V	ENSP00000256999:E425V	E	-	2	0	FOLH1	49149357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.507000	0.73717	1.745000	0.51790	0.496000	0.49642	GAA	FOLH1	-	pfam_Peptidase_M28	ENSG00000086205		0.323	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	193	0.00	0	T	NM_004476		49192781	49192781	-1	no_errors	ENST00000256999	ensembl	human	known	69_37n	missense	95	34.93	51	SNP	1.000	A
GABBR2	9568	genome.wustl.edu	37	9	101052989	101052989	+	Silent	SNP	G	G	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr9:101052989G>A	ENST00000259455.2	-	19	3162	c.2703C>T	c.(2701-2703)caC>caT	p.H901H		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	901					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.H901H(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGAGGTAGGCGTGGTGGAGGA	0.647																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											39.0	37.0	37.0					9																	101052989		2196	4296	6492	-	-	-	SO:0001819	synonymous_variant	0			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2703C>T	9.37:g.101052989G>A			O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.H901	ENST00000259455.2	37	c.2703	CCDS6736.1	9																																																																																			GABBR2	-	NULL	ENSG00000136928		0.647	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	181	0.00	0	G			101052989	101052989	-1	no_errors	ENST00000259455	ensembl	human	known	69_37n	silent	68	13.75	11	SNP	1.000	A
GDF6	392255	genome.wustl.edu	37	8	97172770	97172770	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr8:97172770T>A	ENST00000287020.5	-	1	250	c.151A>T	c.(151-153)Atg>Ttg	p.M51L		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	51					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)		p.M51L(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCCCGCTGCATCTTGCCTTCC	0.697																																						dbGAP											1	Substitution - Missense(1)	breast(1)											49.0	57.0	55.0					8																	97172770		2200	4300	6500	-	-	-	SO:0001583	missense	0				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.151A>T	8.37:g.97172770T>A	ENSP00000287020:p.Met51Leu		Q6PI58	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.M51L	ENST00000287020.5	37	c.151	CCDS34926.1	8	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596569	0.46318	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	T	0.79749	-1.3	4.3	1.92	0.25849	.	9.076750	0.00166	N	0.000000	T	0.66426	0.2788	N	0.14661	0.345	0.24514	N	0.994197	B	0.06786	0.001	B	0.04013	0.001	T	0.52653	-0.8547	10	0.23891	T	0.37	.	5.2634	0.15586	0.0:0.2394:0.0:0.7606	.	51	Q6KF10	GDF6_HUMAN	L	51	ENSP00000287020:M51L	ENSP00000287020:M51L	M	-	1	0	GDF6	97241946	1.000000	0.71417	0.995000	0.50966	0.978000	0.69477	1.237000	0.32695	0.525000	0.28522	0.416000	0.27883	ATG	GDF6	-	NULL	ENSG00000156466		0.697	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF6	HGNC	protein_coding	OTTHUMT00000379862.2	56	0.00	0	T	NM_001001557		97172770	97172770	-1	no_errors	ENST00000287020	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	1.000	A
GRID1	2894	genome.wustl.edu	37	10	87406859	87406860	+	Intron	INS	-	-	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr10:87406859_87406860insA	ENST00000327946.7	-	13	2279				RN7SKP238_ENST00000516483.1_RNA|RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Intron	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GTAACAGGGCTGCTCAGAGGCA	0.589										Multiple Myeloma(13;0.14)																												dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2193+98->T	10.37:g.87406859_87406860insA			B3KXD5|B7Z7L0|Q8IXT3	RNA	INS	-	NULL	ENST00000327946.7	37	NULL	CCDS31236.1	10																																																																																			GRID1	-	-	ENSG00000182771		0.589	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	45	0.00	0	-	XM_043613		87406859	87406860	-1	no_errors	ENST00000474115	ensembl	human	known	69_37n	rna	6	40.00	4	INS	0.000:0.000	A
KHK	3795	genome.wustl.edu	37	2	27320451	27320451	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr2:27320451delC	ENST00000260599.6	+	5	1011	c.498delC	c.(496-498)atcfs	p.I166fs	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Frame_Shift_Del_p.I166fs	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	166					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAGAAGATCCGGGTGTCCG	0.612																																						dbGAP											0													81.0	72.0	75.0					2																	27320451		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.498delC	2.37:g.27320451delC	ENSP00000260599:p.Ile166fs		Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Frame_Shift_Del	DEL	pfam_PfkB	p.R167fs	ENST00000260599.6	37	c.498	CCDS1734.1	2																																																																																			KHK	-	pfam_PfkB	ENSG00000138030		0.612	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KHK	HGNC	protein_coding	OTTHUMT00000214196.1	64	0.00	0	C			27320451	27320451	+1	no_errors	ENST00000260598	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
KRT81	3887	genome.wustl.edu	37	12	52681780	52681780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr12:52681780C>T	ENST00000327741.5	-	5	956	c.888G>A	c.(886-888)tgG>tgA	p.W296*	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	296	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.W296*(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTGCGGTACCAGGACTCGG	0.557																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											82.0	72.0	75.0					12																	52681780		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.888G>A	12.37:g.52681780C>T	ENSP00000369349:p.Trp296*		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Nonsense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.W296*	ENST00000327741.5	37	c.888	CCDS31805.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.211774	0.97380	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	.	.	.	4.48	4.48	0.54585	.	0.000000	0.38959	U	0.001512	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2503	0.87040	0.0:1.0:0.0:0.0	.	.	.	.	X	296	.	ENSP00000369349:W296X	W	-	3	0	KRT81	50968047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.149000	0.50655	2.052000	0.61016	0.556000	0.70494	TGG	KRT81	-	pfam_F,superfamily_Prefoldin	ENSG00000205426		0.557	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT81	HGNC	protein_coding	OTTHUMT00000395128.2	175	0.00	0	C	NM_002281		52681780	52681780	-1	no_errors	ENST00000327741	ensembl	human	known	69_37n	nonsense	72	22.58	21	SNP	1.000	T
LRP3	4037	genome.wustl.edu	37	19	33695733	33695733	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr19:33695733delG	ENST00000253193.7	+	4	652	c.450delG	c.(448-450)cagfs	p.Q150fs	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	150	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCCAGGCCCAGGGCTTCCGTC	0.657																																						dbGAP											0													51.0	48.0	49.0					19																	33695733		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.450delG	19.37:g.33695733delG	ENSP00000253193:p.Gln150fs		B3KQD6|B4DKF2	Frame_Shift_Del	DEL	pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.G151fs	ENST00000253193.7	37	c.450	CCDS12430.1	19																																																																																			LRP3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000130881		0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP3	HGNC	protein_coding	OTTHUMT00000450842.4	62	0.00	0	G			33695733	33695733	+1	no_errors	ENST00000253193	ensembl	human	known	69_37n	frame_shift_del	15	11.11	2	DEL	1.000	-
MECOM	2122	genome.wustl.edu	37	3	168813030	168813030	+	Silent	SNP	G	G	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr3:168813030G>A	ENST00000464456.1	-	11	3462	c.2262C>T	c.(2260-2262)tgC>tgT	p.C754C	MECOM_ENST00000433243.2_Silent_p.C764C|MECOM_ENST00000264674.3_Silent_p.C828C|MECOM_ENST00000472280.1_Silent_p.C764C|MECOM_ENST00000468789.1_Silent_p.C763C|MECOM_ENST00000392736.3_Silent_p.C763C|MECOM_ENST00000460814.1_Silent_p.C754C|MECOM_ENST00000494292.1_Silent_p.C942C	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C763C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACAGTATTTGCATCTGAAAA	0.328																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											72.0	65.0	67.0					3																	168813030		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2262C>T	3.37:g.168813030G>A			Q13466|Q6FH90	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.C942	ENST00000464456.1	37	c.2826	CCDS54669.1	3																																																																																			MECOM	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000085276		0.328	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	142	0.00	0	G	NM_005241, NM_004991		168813030	168813030	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	silent	106	14.52	18	SNP	1.000	A
OR10K2	391107	genome.wustl.edu	37	1	158390579	158390579	+	Silent	SNP	C	C	T			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr1:158390579C>T	ENST00000314902.2	-	1	77	c.78G>A	c.(76-78)ctG>ctA	p.L26L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L26L(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TAACAAAGAGCAGCTGCTGCA	0.527																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											85.0	70.0	76.0					1																	158390579		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.78G>A	1.37:g.158390579C>T				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L26	ENST00000314902.2	37	c.78	CCDS30896.1	1																																																																																			OR10K2	-	prints_7TM_GPCR_Rhodpsn	ENSG00000180708		0.527	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	267	0.00	0	C	NM_001004476		158390579	158390579	-1	no_errors	ENST00000314902	ensembl	human	known	69_37n	silent	62	60.51	95	SNP	0.212	T
PCDHA6	56142	genome.wustl.edu	37	5	140209681	140209681	+	Silent	SNP	C	C	T			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr5:140209681C>T	ENST00000529310.1	+	1	2119	c.2005C>T	c.(2005-2007)Ctg>Ttg	p.L669L	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	669	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L669L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGTGTCGCTGGTGGAGAG	0.677																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											39.0	45.0	43.0					5																	140209681		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2005C>T	5.37:g.140209681C>T			O75283|Q9NRT8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L669	ENST00000529310.1	37	c.2005	CCDS47281.1	5																																																																																			PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081842		0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	51	0.00	0	C	NM_018909		140209681	140209681	+1	no_errors	ENST00000529310	ensembl	human	known	69_37n	silent	8	60.00	12	SNP	0.795	T
PORCN	64840	genome.wustl.edu	37	X	48378800	48378800	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chrX:48378800A>T	ENST00000326194.6	+	14	1365	c.1322A>T	c.(1321-1323)gAg>gTg	p.E441V	PORCN_ENST00000359882.4_Missense_Mutation_p.E435V|PORCN_ENST00000537758.1_Missense_Mutation_p.E441V|PORCN_ENST00000367574.4_Missense_Mutation_p.E359V|PORCN_ENST00000361988.3_Missense_Mutation_p.E430V|PORCN_ENST00000355092.3_Missense_Mutation_p.E435V|EBP_ENST00000495186.1_5'Flank|PORCN_ENST00000355961.4_Missense_Mutation_p.E436V	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	441					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.E441V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTGGTCAGAGCTCAGCTGG	0.522																																						dbGAP											1	Substitution - Missense(1)	breast(1)											147.0	111.0	123.0					X																	48378800		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.1322A>T	X.37:g.48378800A>T	ENSP00000322304:p.Glu441Val		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	pfam_MBOAT_fam	p.E441V	ENST00000326194.6	37	c.1322	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	A	21.0	4.081861	0.76528	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D	0.97924	-3.61;-4.61;-3.3;-3.61;-3.61;-4.61;-3.61	5.11	5.11	0.69529	.	0.051853	0.85682	D	0.000000	D	0.97601	0.9214	M	0.71581	2.175	0.48511	D	0.999666	D;P;P;D;D	0.59357	0.985;0.59;0.804;0.985;0.985	P;B;P;P;P	0.53809	0.735;0.412;0.63;0.668;0.668	D	0.97546	1.0089	10	0.62326	D	0.03	-6.2387	11.8382	0.52338	1.0:0.0:0.0:0.0	.	435;441;359;430;436	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	V	435;441;359;436;430;441;435	ENSP00000352946:E435V;ENSP00000446401:E441V;ENSP00000356546:E359V;ENSP00000348233:E436V;ENSP00000354978:E430V;ENSP00000322304:E441V;ENSP00000347207:E435V	ENSP00000322304:E441V	E	+	2	0	PORCN	48263744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.163000	0.89659	1.697000	0.51169	0.376000	0.23039	GAG	PORCN	-	NULL	ENSG00000102312		0.522	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	195	0.00	0	A	NM_022825		48378800	48378800	+1	no_errors	ENST00000326194	ensembl	human	known	69_37n	missense	72	45.45	60	SNP	1.000	T
PTPRD	5789	genome.wustl.edu	37	9	8486284	8486284	+	Missense_Mutation	SNP	G	G	T	rs61733192		TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr9:8486284G>T	ENST00000381196.4	-	25	3076	c.2533C>A	c.(2533-2535)Cct>Act	p.P845T	PTPRD_ENST00000540109.1_Missense_Mutation_p.P845T|PTPRD_ENST00000356435.5_Missense_Mutation_p.P845T|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.P832T|PTPRD_ENST00000358503.5_Missense_Mutation_p.P823T|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	845	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCACCGGAGGGTGCCACTGA	0.483										TSP Lung(15;0.13)																												dbGAP											0													75.0	74.0	75.0					9																	8486284		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2533C>A	9.37:g.8486284G>T	ENSP00000370593:p.Pro845Thr		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.P845T	ENST00000381196.4	37	c.2533	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467198	0.84533	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74794	0.3763	M	0.77486	2.375	0.80722	D	1	D;P;P	0.58970	0.984;0.659;0.875	P;B;P	0.57846	0.828;0.191;0.627	T	0.73655	-0.3914	9	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	832;845;845	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	T	845;845;832;823;845	ENSP00000370593:P845T;ENSP00000348812:P845T;ENSP00000353187:P832T;ENSP00000351293:P823T;ENSP00000438164:P845T	.	P	-	1	0	PTPRD	8476284	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.643000	0.74334	2.826000	0.97356	0.655000	0.94253	CCT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	87	0.00	0	G			8486284	8486284	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	missense	21	54.35	25	SNP	1.000	T
RAD51	5888	genome.wustl.edu	37	15	41021711	41021711	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr15:41021711T>G	ENST00000267868.3	+	8	921	c.653T>G	c.(652-654)cTg>cGg	p.L218R	RAD51_ENST00000532743.1_Missense_Mutation_p.L219R|RAD51_ENST00000423169.2_Missense_Mutation_p.L218R|RAD51_ENST00000530766.1_3'UTR|RAD51_ENST00000557850.1_Missense_Mutation_p.L121R|RAD51_ENST00000382643.3_Missense_Mutation_p.L219R	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	218	Interaction with PALB2.				ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.L218R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AGGTATGCACTGCTTATTGTA	0.483								Homologous recombination																														dbGAP											1	Substitution - Missense(1)	breast(1)											83.0	77.0	79.0					15																	41021711		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.653T>G	15.37:g.41021711T>G	ENSP00000267868:p.Leu218Arg		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51	p.L219R	ENST00000267868.3	37	c.656	CCDS10062.1	15	.	.	.	.	.	.	.	.	.	.	T	27.0	4.791935	0.90453	.	.	ENSG00000051180	ENST00000423169;ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.72	5.72	0.89469	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.222027	0.39210	N	0.001439	D	0.84813	0.5555	H	0.99487	4.59	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.78314	0.986;0.991;0.982	D	0.91624	0.5313	10	0.87932	D	0	-2.7931	16.0151	0.80430	0.0:0.0:0.0:1.0	.	218;219;218	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	R	218;121;218;219;219	ENSP00000406602:L218R;ENSP00000267868:L218R;ENSP00000433924:L219R;ENSP00000372088:L219R	ENSP00000267868:L218R	L	+	2	0	RAD51	38809003	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.964000	0.87933	2.183000	0.69458	0.377000	0.23210	CTG	RAD51	-	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DNA_recomb/repair_Rad51	ENSG00000051180		0.483	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RAD51	HGNC	protein_coding	OTTHUMT00000252358.1	65	0.00	0	T	NM_002875, NM_133487		41021711	41021711	+1	no_errors	ENST00000382643	ensembl	human	known	69_37n	missense	19	54.76	23	SNP	1.000	G
RPS4X	6191	genome.wustl.edu	37	X	71493102	71493102	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chrX:71493102T>G	ENST00000316084.6	-	6	774	c.670A>C	c.(670-672)Aac>Cac	p.N224H	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	224					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.N224H(1)		NS(1)|large_intestine(1)	2	Renal(35;0.156)					ACAAAAATGTTGGAAAGTCGA	0.463																																						dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	64.0	68.0					X																	71493102		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.670A>C	X.37:g.71493102T>G	ENSP00000362744:p.Asn224His		P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd	p.N224H	ENST00000316084.6	37	c.670	CCDS14418.1	X	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865978	0.71949	.	.	ENSG00000198034	ENST00000316084	D	0.92149	-2.98	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	M	0.92122	3.275	0.80722	D	1	P	0.37233	0.588	P	0.46275	0.51	D	0.95346	0.8442	10	0.87932	D	0	.	11.1003	0.48170	0.0:0.0:0.0:1.0	.	224	P62701	RS4X_HUMAN	H	224	ENSP00000362744:N224H	ENSP00000362744:N224H	N	-	1	0	RPS4X	71409827	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.859000	0.86982	1.587000	0.49959	0.486000	0.48141	AAC	RPS4X	-	pirsf_Ribosomal_S4e	ENSG00000198034		0.463	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS4X	HGNC	protein_coding	OTTHUMT00000057188.1	239	0.00	0	T	NM_001007		71493102	71493102	-1	no_errors	ENST00000316084	ensembl	human	known	69_37n	missense	106	48.04	98	SNP	1.000	G
SLC16A13	201232	genome.wustl.edu	37	17	6940081	6940081	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr17:6940081C>T	ENST00000308027.6	+	2	543	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	79						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GAAGTTCGGGCCCAGGCCCGT	0.627																																						dbGAP											0													113.0	114.0	114.0					17																	6940081		2203	4300	6503	-	-	-	SO:0001583	missense	0			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.235C>T	17.37:g.6940081C>T	ENSP00000309751:p.Pro79Ser		A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P79S	ENST00000308027.6	37	c.235	CCDS11085.1	17	.	.	.	.	.	.	.	.	.	.	C	9.557	1.117585	0.20877	.	.	ENSG00000174327	ENST00000308027	T	0.35973	1.28	4.39	4.39	0.52855	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.252557	0.42294	D	0.000736	T	0.14485	0.0350	N	0.04043	-0.29	0.34298	D	0.68405	B	0.22683	0.073	B	0.25987	0.065	T	0.21861	-1.0233	10	0.06099	T	0.92	.	8.4318	0.32761	0.0:0.8948:0.0:0.1052	.	79	Q7RTY0	MOT13_HUMAN	S	79	ENSP00000309751:P79S	ENSP00000309751:P79S	P	+	1	0	SLC16A13	6880805	0.079000	0.21365	1.000000	0.80357	0.938000	0.57974	0.386000	0.20702	2.426000	0.82243	0.561000	0.74099	CCC	SLC16A13	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000174327		0.627	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A13	HGNC	protein_coding	OTTHUMT00000219923.2	82	0.00	0	C			6940081	6940081	+1	no_errors	ENST00000308027	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	0.996	T
SLC17A7	57030	genome.wustl.edu	37	19	49933805	49933806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr19:49933805_49933806insG	ENST00000221485.3	-	12	1824_1825	c.1653_1654insC	c.(1651-1656)cccaggfs	p.R552fs	SLC17A7_ENST00000600601.1_Frame_Shift_Ins_p.R485fs|SLC17A7_ENST00000543531.1_Frame_Shift_Ins_p.R540fs	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	552	Pro-rich.				glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGTGGGGGCCTGGGGGGCTGAA	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1654dupC	19.37:g.49933811_49933811dupG	ENSP00000221485:p.Arg552fs		B4DFR9|B4DG46|Q6PCD0	Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R551fs	ENST00000221485.3	37	c.1654_1653	CCDS12764.1	19																																																																																			SLC17A7	-	NULL	ENSG00000104888		0.639	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A7	HGNC	protein_coding	OTTHUMT00000465367.2	50	0.00	0	-			49933805	49933806	-1	no_errors	ENST00000221485	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	0.558:0.428	G
SLC9A3	6550	genome.wustl.edu	37	5	475689	475689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr5:475689delG	ENST00000264938.3	-	15	2247	c.2238delC	c.(2236-2238)tccfs	p.S746fs	CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.5_ENST00000510714.1_5'Flank|SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.S737fs|CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000606319.1_RNA|CTD-2228K2.5_ENST00000510604.1_5'Flank|CTD-2228K2.5_ENST00000342584.3_5'Flank|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	746					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CAGGGGAGTCGGACGCTGTGT	0.637																																						dbGAP											0													36.0	30.0	32.0					5																	475689		2134	4170	6304	-	-	-	SO:0001589	frameshift_variant	0				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.2238delC	5.37:g.475689delG	ENSP00000264938:p.Ser746fs		B7ZKR2|E9PF67|Q3MIW3	Frame_Shift_Del	DEL	pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_bac,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.D747fs	ENST00000264938.3	37	c.2238	CCDS3855.1	5																																																																																			SLC9A3	-	NULL	ENSG00000066230		0.637	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3	HGNC	protein_coding	OTTHUMT00000206677.2	58	0.00	0	G	NM_004174		475689	475689	-1	no_errors	ENST00000264938	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.015	-
TACC1	6867	genome.wustl.edu	37	8	38696043	38696043	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr8:38696043G>A	ENST00000317827.4	+	8	2274	c.1895G>A	c.(1894-1896)cGg>cAg	p.R632Q	TACC1_ENST00000379931.3_Missense_Mutation_p.R644Q|TACC1_ENST00000276520.8_Missense_Mutation_p.R222Q|TACC1_ENST00000520611.1_Missense_Mutation_p.R70Q|TACC1_ENST00000520340.1_Missense_Mutation_p.R567Q|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000348567.4_Missense_Mutation_p.R194Q|TACC1_ENST00000520615.1_Missense_Mutation_p.R437Q|TACC1_ENST00000519416.1_Missense_Mutation_p.R436Q|TACC1_ENST00000520973.1_Missense_Mutation_p.R408Q|TACC1_ENST00000330691.6_Missense_Mutation_p.R206Q|TACC1_ENST00000518415.1_Missense_Mutation_p.R558Q|TACC1_ENST00000443286.2_Missense_Mutation_p.R619Q	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	632					cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.R632Q(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GAAGAGACCCGGCAAGAAGTT	0.373																																						dbGAP											2	Substitution - Missense(2)	breast(2)											98.0	106.0	103.0					8																	38696043		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1895G>A	8.37:g.38696043G>A	ENSP00000321703:p.Arg632Gln		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	pfam_TACC	p.R644Q	ENST00000317827.4	37	c.1931	CCDS6109.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.721013|4.721013	0.89205|0.89205	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000521866;ENST00000518809|ENST00000519416;ENST00000520615;ENST00000443286;ENST00000518415;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973;ENST00000520611	.|T;T;T;T;T;T;T;T;T;T;T	.|0.42513	.|0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.067343	.|0.64402	.|D	.|0.000016	T|T	0.47395|0.47395	0.1443|0.1443	N|N	0.17474|0.17474	0.49|0.49	0.43408|0.43408	D|D	0.995546|0.995546	.|D;D;D;D;D;P;D;P;D	.|0.89917	.|0.975;0.989;1.0;1.0;0.999;0.782;0.993;0.593;0.999	.|P;P;D;D;D;B;P;B;D	.|0.97110	.|0.854;0.906;0.968;1.0;0.944;0.405;0.735;0.349;0.981	T|T	0.41106|0.41106	-0.9527|-0.9527	5|10	.|0.37606	.|T	.|0.19	-5.2425|-5.2425	13.419|13.419	0.60985|0.60985	0.0714:0.0:0.9286:0.0|0.0714:0.0:0.9286:0.0	.|.	.|408;408;619;644;632;194;222;436;558	.|E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-5;O75410-6;E7ET87;O75410-7	.|.;.;.;.;TACC1_HUMAN;.;.;.;.	S|Q	390;282|436;437;619;558;206;194;632;644;222;408;70	.|ENSP00000428687:R436Q;ENSP00000428450:R437Q;ENSP00000393647:R619Q;ENSP00000428706:R558Q;ENSP00000332794:R206Q;ENSP00000327818:R194Q;ENSP00000321703:R632Q;ENSP00000369263:R644Q;ENSP00000276520:R222Q;ENSP00000430959:R408Q;ENSP00000429418:R70Q	.|ENSP00000276520:R222Q	G|R	+|+	1|2	0|0	TACC1|TACC1	38815200|38815200	0.946000|0.946000	0.32159|0.32159	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.912000|3.912000	0.56386|0.56386	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	GGC|CGG	TACC1	-	pfam_TACC	ENSG00000147526		0.373	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	278	0.36	1	G	NM_006283		38696043	38696043	+1	no_errors	ENST00000379931	ensembl	human	known	69_37n	missense	485	16.38	95	SNP	0.999	A
TTC9C	283237	genome.wustl.edu	37	11	62505789	62505789	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr11:62505789A>T	ENST00000316461.4	+	3	761	c.451A>T	c.(451-453)Aca>Tca	p.T151S	TTC9C_ENST00000532583.1_Missense_Mutation_p.T151S	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	151								p.T151S(1)		breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						CCTCCAGCTGACACAGTCAGA	0.458																																						dbGAP											1	Substitution - Missense(1)	breast(1)											70.0	62.0	65.0					11																	62505789		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"""Tetratricopeptide (TTC) repeat domain containing"""	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.451A>T	11.37:g.62505789A>T	ENSP00000325266:p.Thr151Ser		Q8WYY7	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T151S	ENST00000316461.4	37	c.451	CCDS8033.1	11	.	.	.	.	.	.	.	.	.	.	A	27.5	4.832645	0.91036	.	.	ENSG00000162222	ENST00000316461;ENST00000532583;ENST00000532276	T;T;T	0.73897	2.22;2.22;-0.79	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.69708	0.3141	L	0.60067	1.865	0.80722	D	1	P	0.43826	0.818	B	0.36186	0.219	T	0.74535	-0.3633	9	0.62326	D	0.03	.	14.5809	0.68288	1.0:0.0:0.0:0.0	.	151	Q8N5M4	TTC9C_HUMAN	S	151;151;49	ENSP00000325266:T151S;ENSP00000434340:T151S;ENSP00000434137:T49S	ENSP00000325266:T151S	T	+	1	0	TTC9C	62262365	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.266000	0.65525	2.326000	0.78906	0.533000	0.62120	ACA	TTC9C	-	NULL	ENSG00000162222		0.458	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC9C	HGNC	protein_coding	OTTHUMT00000395338.1	135	0.00	0	A	NM_173810		62505789	62505789	+1	no_errors	ENST00000316461	ensembl	human	known	69_37n	missense	85	38.41	53	SNP	1.000	T
WBSCR28	135886	genome.wustl.edu	37	7	73279580	73279580	+	Silent	SNP	C	C	T			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr7:73279580C>T	ENST00000320531.2	+	2	366	c.330C>T	c.(328-330)ggC>ggT	p.G110G		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	110						integral component of membrane (GO:0016021)		p.G110G(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				AGGGCCTGGGCCTGGCCTTGC	0.627																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											49.0	50.0	50.0					7																	73279580		2119	4224	6343	-	-	-	SO:0001819	synonymous_variant	0			BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.330C>T	7.37:g.73279580C>T			Q6UE04|Q8NHP4	Silent	SNP	NULL	p.G110	ENST00000320531.2	37	c.330	CCDS43597.1	7																																																																																			WBSCR28	-	NULL	ENSG00000175877		0.627	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR28	HGNC	protein_coding	OTTHUMT00000348130.1	79	0.00	0	C	NM_182504		73279580	73279580	+1	no_errors	ENST00000320531	ensembl	human	known	69_37n	silent	25	21.88	7	SNP	0.007	T
ZFP36L2	678	genome.wustl.edu	37	2	43452622	43452623	+	Frame_Shift_Ins	INS	-	-	C	rs200743741		TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr2:43452622_43452623insC	ENST00000282388.3	-	2	613_614	c.320_321insG	c.(319-321)ggcfs	p.G107fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	107	Poly-Gly.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G107G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTGTGCCGCCGCCCCCCGACGG	0.693																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.321dupG	2.37:g.43452628_43452628dupC	ENSP00000282388:p.Gly107fs		Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.G108fs	ENST00000282388.3	37	c.321_320	CCDS1811.1	2																																																																																			ZFP36L2	-	pfam_Tis11B_N	ENSG00000152518		0.693	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	49	0.00	0	-	NM_006887		43452622	43452623	-1	no_errors	ENST00000282388	ensembl	human	known	69_37n	frame_shift_ins	1	90.00	9	INS	0.998:1.000	C
WNT6	7475	genome.wustl.edu	37	2	219735910	219735910	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr2:219735910G>A	ENST00000233948.3	+	2	459	c.242G>A	c.(241-243)cGc>cAc	p.R81H	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	81					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.R81H(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCAGTTCCGCTTCCGCCGC	0.682																																						dbGAP											1	Substitution - Missense(1)	breast(1)											35.0	45.0	42.0					2																	219735910		2202	4297	6499	-	-	-	SO:0001583	missense	0			AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.242G>A	2.37:g.219735910G>A	ENSP00000233948:p.Arg81His		Q9H1J6|Q9H238	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt6	p.R81H	ENST00000233948.3	37	c.242	CCDS2425.1	2	.	.	.	.	.	.	.	.	.	.	g	35	5.417781	0.96092	.	.	ENSG00000115596	ENST00000233948	T	0.78595	-1.19	5.02	5.02	0.67125	.	0.122892	0.50627	D	0.000106	D	0.85852	0.5793	L	0.54965	1.715	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87391	0.2363	10	0.87932	D	0	.	17.3339	0.87274	0.0:0.0:1.0:0.0	.	81	Q9Y6F9	WNT6_HUMAN	H	81	ENSP00000233948:R81H	ENSP00000233948:R81H	R	+	2	0	WNT6	219444154	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	9.752000	0.98900	2.336000	0.79503	0.586000	0.80456	CGC	WNT6	-	pfam_Wnt,smart_Wnt	ENSG00000115596		0.682	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT6	HGNC	protein_coding	OTTHUMT00000256727.2	39	0.00	0	G	NM_006522		219735910	219735910	+1	no_errors	ENST00000233948	ensembl	human	known	69_37n	missense	10	38.89	7	SNP	1.000	A
ZNF135	7694	genome.wustl.edu	37	19	58578672	58578673	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0HW-01A-11W-A050-09	TCGA-BH-A0HW-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	706ec3be-bd65-4f42-b5cc-603f7f62c91a	76e4b953-efcc-401c-916a-e3c7ecbe8de6	g.chr19:58578672_58578673insA	ENST00000313434.5	+	5	921_922	c.820_821insA	c.(820-822)cagfs	p.Q274fs	ZNF135_ENST00000359978.6_Frame_Shift_Ins_p.Q286fs|ZNF135_ENST00000439855.2_Frame_Shift_Ins_p.Q274fs|ZNF135_ENST00000506786.1_Frame_Shift_Ins_p.Q232fs|ZNF135_ENST00000511556.1_Frame_Shift_Ins_p.Q286fs|ZNF135_ENST00000401053.4_Frame_Shift_Ins_p.Q298fs|RN7SL526P_ENST00000469492.2_RNA	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	274					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C299fs*21(1)|p.C275fs*21(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TAAATGCACTCAGTGTGGGAGG	0.49																																						dbGAP											2	Insertion - Frameshift(2)	breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.821dupA	19.37:g.58578673_58578673dupA	ENSP00000321406:p.Gln274fs		B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C299fs	ENST00000313434.5	37	c.892_893		19																																																																																			ZNF135	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176293		0.490	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2	112	0.00	0	-	NM_003436		58578672	58578673	+1	no_errors	ENST00000401053	ensembl	human	known	69_37n	frame_shift_ins	55	47.12	49	INS	0.001:0.007	A
