#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
ANKRD18B	441459	genome.wustl.edu	37	9	33536929	33536929	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr9:33536929G>A	ENST00000290943.6	+	6	890	c.794G>A	c.(793-795)cGa>cAa	p.R265Q		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	265										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						AATCATCTTCGAAATGACAAT	0.294																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.794G>A	9.37:g.33536929G>A	ENSP00000290943:p.Arg265Gln			Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R265Q	ENST00000290943.6	37	c.794		9	.	.	.	.	.	.	.	.	.	.	g	2.227	-0.376940	0.05000	.	.	ENSG00000230453	ENST00000290943	T	0.27402	1.67	1.46	-0.219	0.13135	.	.	.	.	.	T	0.12135	0.0295	.	.	.	0.29755	N	0.836009	.	.	.	.	.	.	T	0.35325	-0.9793	5	0.10902	T	0.67	.	3.4104	0.07356	0.7501:0.0:0.2499:0.0	.	.	.	.	Q	265	ENSP00000290943:R265Q	ENSP00000290943:R265Q	R	+	2	0	ANKRD18B	33526929	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-0.008000	0.12788	0.038000	0.15604	-0.708000	0.03648	CGA	ANKRD18B	-	NULL	ENSG00000230453		0.294	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	HGNC	protein_coding	OTTHUMT00000313729.2	64	0.00	0	G	XM_001718334		33536929	33536929	+1	no_errors	ENST00000290943	ensembl	human	known	69_37n	missense	26	56.67	34	SNP	0.001	A
ARID1A	8289	genome.wustl.edu	37	1	27107135	27107136	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr1:27107135_27107136insA	ENST00000324856.7	+	20	7117_7118	c.6746_6747insA	c.(6745-6750)tcagagfs	p.E2250fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.E2033fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.E578fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.E1867fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2250					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.(2287)fs(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)		GAGAACCACTCAGAGTTTACTC	0.515			"""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	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)																																								-	-	-	SO:0001589	frameshift_variant	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.6747dupA	1.37:g.27107136_27107136dupA	ENSP00000320485:p.Glu2250fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	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.E2250fs	ENST00000324856.7	37	c.6746_6747	CCDS285.1	1																																																																																			ARID1A	-	superfamily_ARM-type_fold	ENSG00000117713		0.515	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	27	0.00	0	-	NM_139135		27107135	27107136	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	frame_shift_ins	2	71.43	5	INS	1.000:0.712	A
ARID4B	51742	genome.wustl.edu	37	1	235336038	235336038	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr1:235336038G>C	ENST00000264183.3	-	23	4203	c.3706C>G	c.(3706-3708)Ctt>Gtt	p.L1236V	ARID4B-IT1_ENST00000357671.6_RNA|ARID4B_ENST00000366603.2_Missense_Mutation_p.L1236V|ARID4B_ENST00000349213.3_Missense_Mutation_p.L1150V	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1236					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L1236I(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTTCTTGAAGAATTGTGATG	0.313																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											76.0	72.0	73.0					1																	235336038		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3706C>G	1.37:g.235336038G>C	ENSP00000264183:p.Leu1236Val		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L1236V	ENST00000264183.3	37	c.3706	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354334	0.82243	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.60171	0.21;0.23;0.23	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	L	0.60067	1.865	0.58432	D	0.999993	D;D	0.69078	0.99;0.997	D;D	0.78314	0.979;0.991	T	0.75453	-0.3312	10	0.87932	D	0	-11.4728	20.047	0.97613	0.0:0.0:1.0:0.0	.	1150;1236	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	V	1150;1236;1236	ENSP00000264184:L1150V;ENSP00000355562:L1236V;ENSP00000264183:L1236V	ENSP00000264183:L1236V	L	-	1	0	ARID4B	233402661	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.265000	0.95647	2.821000	0.97095	0.555000	0.69702	CTT	ARID4B	-	NULL	ENSG00000054267		0.313	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	85	0.00	0	G	NM_016374		235336038	235336038	-1	no_errors	ENST00000264183	ensembl	human	known	69_37n	missense	75	22.68	22	SNP	1.000	C
BRD1	23774	genome.wustl.edu	37	22	50187683	50187683	+	Splice_Site	DEL	T	T	-			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr22:50187683delT	ENST00000216267.8	-	6	2844	c.2358delA	c.(2356-2358)gaa>ga	p.E786fs	BRD1_ENST00000457780.2_Splice_Site_p.E786fs|BRD1_ENST00000404760.1_Splice_Site_p.E786fs|BRD1_ENST00000404034.1_Splice_Site_p.E786fs|BRD1_ENST00000342989.5_Splice_Site_p.E381fs|BRD1_ENST00000542442.1_Splice_Site_p.E474fs	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	786					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGCTTACCTTCCTCGCCCG	0.682																																						dbGAP											0													30.0	34.0	33.0					22																	50187683		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2359+1A>-	22.37:g.50187683delT			A6ZJA4	Frame_Shift_Del	DEL	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.V787fs	ENST00000216267.8	37	c.2358	CCDS14080.1	22																																																																																			BRD1	-	NULL	ENSG00000100425		0.682	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	17	0.00	0	T	NM_014577	Frame_Shift_Del	50187683	50187683	-1	no_errors	ENST00000216267	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000	-
CHEK1	1111	genome.wustl.edu	37	11	125505402	125505402	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr11:125505402delG	ENST00000534070.1	+	7	947	c.692delG	c.(691-693)tggfs	p.W231fs	CHEK1_ENST00000428830.2_Frame_Shift_Del_p.W231fs|CHEK1_ENST00000544373.1_Frame_Shift_Del_p.W231fs|CHEK1_ENST00000524737.1_Frame_Shift_Del_p.W231fs|CHEK1_ENST00000278916.3_Frame_Shift_Del_p.W231fs|CHEK1_ENST00000427383.2_Frame_Shift_Del_p.W247fs|CHEK1_ENST00000438015.1_Frame_Shift_Del_p.W231fs|CHEK1_ENST00000532449.1_3'UTR	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	231	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		CTCAACCCTTGGAAAAAAATC	0.383								Other conserved DNA damage response genes																														dbGAP											0													85.0	93.0	90.0					11																	125505402		2201	4299	6500	-	-	-	SO:0001589	frameshift_variant	0			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.692delG	11.37:g.125505402delG	ENSP00000435371:p.Trp231fs		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.W231fs	ENST00000534070.1	37	c.692	CCDS8459.1	11																																																																																			CHEK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000149554		0.383	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CHEK1	HGNC	protein_coding	OTTHUMT00000386714.1	24	0.00	0	G	NM_001274		125505402	125505402	+1	no_errors	ENST00000438015	ensembl	human	known	69_37n	frame_shift_del	7	22.22	2	DEL	1.000	-
GATA3	2625	genome.wustl.edu	37	10	8115985	8115986	+	Stop_Codon_Ins	INS	-	-	C			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr10:8115985_8115986insC	ENST00000346208.3	+	0	1786_1787				GATA3_ENST00000379328.3_Stop_Codon_Ins|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCCATGGGTTAGAGCCCTGCTC	0.609			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001567	stop_retained_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	Exception_encountered	10.37:g.8115985_8115986insC	ENSP00000341619:p.*444Tyrext*62		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.*445fs	ENST00000346208.3	37	c.1334_1335	CCDS7083.1	10																																																																																			GATA3	-	NULL	ENSG00000107485		0.609	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	27	0.00	0	-	NM_001002295		8115985	8115986	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	14	33.33	7	INS	1.000:1.000	C
DLG5	9231	genome.wustl.edu	37	10	79567580	79567580	+	Silent	SNP	G	G	A			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr10:79567580G>A	ENST00000372391.2	-	25	4775	c.4770C>T	c.(4768-4770)ggC>ggT	p.G1590G	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.G1250G	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1590					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CACCAGGCAGGCCCTTGGCCT	0.567																																						dbGAP											0													110.0	94.0	99.0					10																	79567580		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4770C>T	10.37:g.79567580G>A			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.G1590	ENST00000372391.2	37	c.4770	CCDS7353.2	10																																																																																			DLG5	-	superfamily_PDZ	ENSG00000151208		0.567	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	31	0.00	0	G			79567580	79567580	-1	no_errors	ENST00000372391	ensembl	human	known	69_37n	silent	6	53.85	7	SNP	0.993	A
INPP5E	56623	genome.wustl.edu	37	9	139328559	139328559	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr9:139328559delG	ENST00000371712.3	-	3	1366	c.964delC	c.(964-966)ctgfs	p.L323fs		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GCTGGGAGCAGGAACTCGTCC	0.672																																						dbGAP											0													39.0	35.0	36.0					9																	139328559		2197	4297	6494	-	-	-	SO:0001589	frameshift_variant	0			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.964delC	9.37:g.139328559delG	ENSP00000360777:p.Leu323fs		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Frame_Shift_Del	DEL	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.L322fs	ENST00000371712.3	37	c.964	CCDS7000.1	9																																																																																			INPP5E	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000148384		0.672	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5E	HGNC	protein_coding	OTTHUMT00000055058.1	17	0.00	0	G	NM_019892		139328559	139328559	-1	no_errors	ENST00000371712	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	0.995	-
KCNH6	81033	genome.wustl.edu	37	17	61611456	61611456	+	Silent	SNP	T	T	C			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr17:61611456T>C	ENST00000583023.1	+	5	896	c.885T>C	c.(883-885)taT>taC	p.Y295Y	KCNH6_ENST00000580652.1_Silent_p.Y295Y|KCNH6_ENST00000581784.1_Silent_p.Y295Y|KCNH6_ENST00000314672.5_Silent_p.Y295Y|KCNH6_ENST00000456941.2_Silent_p.Y295Y	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	295					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCTGCAGCTATACCTGCAGTC	0.562																																						dbGAP											0													135.0	118.0	124.0					17																	61611456		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.885T>C	17.37:g.61611456T>C			Q9BRD7	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.Y295	ENST00000583023.1	37	c.885	CCDS11638.1	17																																																																																			KCNH6	-	NULL	ENSG00000173826		0.562	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	32	0.00	0	T	NM_030779		61611456	61611456	+1	no_errors	ENST00000583023	ensembl	human	known	69_37n	silent	52	11.86	7	SNP	1.000	C
KIAA1211L	343990	genome.wustl.edu	37	2	99448832	99448832	+	Silent	SNP	C	C	T			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr2:99448832C>T	ENST00000397899.2	-	5	850	c.519G>A	c.(517-519)gtG>gtA	p.V173V	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	173																	TACCAGGACCCACGTCGTGCA	0.637																																						dbGAP											0													67.0	74.0	72.0					2																	99448832		2016	4172	6188	-	-	-	SO:0001819	synonymous_variant	0			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.519G>A	2.37:g.99448832C>T				Silent	SNP	NULL	p.V173	ENST00000397899.2	37	c.519	CCDS42720.1	2																																																																																			KIAA1211L	-	NULL	ENSG00000196872		0.637	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211L	HGNC	protein_coding	OTTHUMT00000329933.1	25	0.00	0	C	NM_207362		99448832	99448832	-1	no_errors	ENST00000397899	ensembl	human	known	69_37n	silent	5	66.67	10	SNP	0.000	T
LUM	4060	genome.wustl.edu	37	12	91502360	91502360	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr12:91502360C>G	ENST00000266718.4	-	2	851	c.397G>C	c.(397-399)Ggc>Cgc	p.G133R	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	133					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GGAAGTGGGCCCACAGACTCT	0.423																																						dbGAP											0													107.0	110.0	109.0					12																	91502360		2203	4300	6503	-	-	-	SO:0001583	missense	0			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.397G>C	12.37:g.91502360C>G	ENSP00000266718:p.Gly133Arg		B2R6R5|Q96QM7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.G133R	ENST00000266718.4	37	c.397	CCDS9038.1	12	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457233	0.63401	.	.	ENSG00000139329	ENST00000266718	T	0.40476	1.03	5.6	4.68	0.58851	.	0.171348	0.51477	D	0.000100	T	0.30070	0.0753	N	0.13198	0.31	0.58432	D	0.999992	B	0.32101	0.356	B	0.37780	0.258	T	0.09250	-1.0683	10	0.25751	T	0.34	-16.5718	13.4895	0.61386	0.0:0.9222:0.0:0.0778	.	133	P51884	LUM_HUMAN	R	133	ENSP00000266718:G133R	ENSP00000266718:G133R	G	-	1	0	LUM	90026491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.652000	0.37313	1.321000	0.45227	0.557000	0.71058	GGC	LUM	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000139329		0.423	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUM	HGNC	protein_coding	OTTHUMT00000407150.2	43	0.00	0	C	NM_002345		91502360	91502360	-1	no_errors	ENST00000266718	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	G
MUC5B	727897	genome.wustl.edu	37	11	1266710	1266710	+	Missense_Mutation	SNP	T	T	A			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr11:1266710T>A	ENST00000529681.1	+	31	8658	c.8600T>A	c.(8599-8601)gTg>gAg	p.V2867E	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V2870E	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2867	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGGTGGTGACCATGGGC	0.667																																						dbGAP											0													46.0	56.0	53.0					11																	1266710		1703	3793	5496	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8600T>A	11.37:g.1266710T>A	ENSP00000436812:p.Val2867Glu		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V2870E	ENST00000529681.1	37	c.8609	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	4.376	0.069438	0.08436	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16457	2.34;2.53	2.09	-4.12	0.03916	.	.	.	.	.	T	0.08758	0.0217	N	0.19112	0.55	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.09377	0.003;0.004	T	0.33394	-0.9870	9	0.87932	D	0	.	4.034	0.09721	0.164:0.5057:0.0:0.3303	.	3450;2870	A7Y9J9;E9PBJ0	.;.	E	2867;2870;2839;2827	ENSP00000436812:V2867E;ENSP00000415793:V2870E	ENSP00000343037:V2839E	V	+	2	0	MUC5B	1223286	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.033000	0.12246	-0.937000	0.03719	-0.907000	0.02831	GTG	MUC5B	-	NULL	ENSG00000117983		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	56	0.00	0	T	XM_001126093		1266710	1266710	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	27	54.24	32	SNP	0.000	A
MYH1	4619	genome.wustl.edu	37	17	10406521	10406521	+	Silent	SNP	T	T	A			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr17:10406521T>A	ENST00000226207.5	-	23	2830	c.2736A>T	c.(2734-2736)ctA>ctT	p.L912L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	912					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTTTTGATTAGCTGGTCAC	0.423																																						dbGAP											0													98.0	96.0	97.0					17																	10406521		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2736A>T	17.37:g.10406521T>A			Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L912	ENST00000226207.5	37	c.2736	CCDS11155.1	17																																																																																			MYH1	-	NULL	ENSG00000109061		0.423	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	144	0.00	0	T	NM_005963		10406521	10406521	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	silent	68	21.84	19	SNP	0.991	A
NBPF10	100132406	genome.wustl.edu	37	1	145311128	145311128	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr1:145311128G>T	ENST00000369339.3	+	10	1267	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	NBPF10_ENST00000369338.1_Missense_Mutation_p.K338N|NBPF10_ENST00000342960.5_Missense_Mutation_p.K609N|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	609						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTGAAAAAGGAGGACCAAG	0.448																																						dbGAP											0													104.0	94.0	97.0					1																	145311128		692	1590	2282	-	-	-	SO:0001583	missense	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1014G>T	1.37:g.145311128G>T	ENSP00000358345:p.Lys338Asn		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.K609N	ENST00000369339.3	37	c.1827		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.244|3.244	-0.154789|-0.154789	0.06544|0.06544	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369334|ENST00000369339;ENST00000448873;ENST00000369338;ENST00000369364;ENST00000342960	.|T;T	.|0.06768	.|3.83;3.26	0.429|0.429	-0.807|-0.807	0.10872|0.10872	.|.	.|.	.|.	.|.	.|.	.|T	.|0.07007	.|0.0178	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|D	.|0.60575	.|0.988	.|D	.|0.64687	.|0.928	.|T	.|0.17501	.|-1.0367	.|8	0.51188|0.44086	T|T	0.08|0.13	.|.	.|.	.|.	.|.	.|.	.|284	.|Q4VC10	.|.	X|N	284|340;534;338;15;609	.|ENSP00000358344:K338N;ENSP00000345684:K609N	ENSP00000358340:G284X|ENSP00000345684:K609N	G|K	+|+	1|3	0|2	NBPF10|NBPF10	144022485|144022485	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.026000|0.026000	0.11368|0.11368	-0.228000|-0.228000	0.09114|0.09114	-0.401000|-0.401000	0.07644|0.07644	0.175000|0.175000	0.17021|0.17021	GGA|AAG	NBPF10	-	pfam_NBPF_dom	ENSG00000163386		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	326	0.00	0	G	NM_001039703		145311128	145311128	+1	no_errors	ENST00000342960	ensembl	human	known	69_37n	missense	282	11.32	36	SNP	0.001	T
NXPH1	30010	genome.wustl.edu	37	7	8791227	8791227	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr7:8791227C>T	ENST00000405863.1	+	3	1555	c.644C>T	c.(643-645)tCa>tTa	p.S215L	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.S98L	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	215	V (Cys-rich).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TATGACCCTTCAAAAACCTGT	0.403																																						dbGAP											0													48.0	45.0	46.0					7																	8791227		1886	4120	6006	-	-	-	SO:0001583	missense	0			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.644C>T	7.37:g.8791227C>T	ENSP00000384551:p.Ser215Leu		Q8NB31	Missense_Mutation	SNP	pirsf_Neurexophilin	p.S215L	ENST00000405863.1	37	c.644	CCDS47540.1	7	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002926	0.74932	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78824	0.4344	M	0.72118	2.19	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.78152	-0.2315	9	0.52906	T	0.07	-6.5414	19.6556	0.95837	0.0:1.0:0.0:0.0	.	215	P58417	NXPH1_HUMAN	L	215;98	.	ENSP00000384551:S215L	S	+	2	0	NXPH1	8757752	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.625000	0.83145	2.882000	0.98803	0.655000	0.94253	TCA	NXPH1	-	pirsf_Neurexophilin	ENSG00000122584		0.403	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH1	HGNC	protein_coding	OTTHUMT00000324591.1	32	0.00	0	C	NM_152745		8791227	8791227	+1	no_errors	ENST00000405863	ensembl	human	known	69_37n	missense	6	60.00	9	SNP	1.000	T
PAK7	57144	genome.wustl.edu	37	20	9523320	9523320	+	Silent	SNP	G	G	A	rs191751301		TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr20:9523320G>A	ENST00000378429.3	-	10	2463	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	PAK7_ENST00000378423.1_Silent_p.G639G|PAK7_ENST00000353224.5_Silent_p.G639G	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	639	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G639G(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGGGGGCTCGCCATCAATCA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		17558	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											129.0	119.0	123.0					20																	9523320		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1917C>T	20.37:g.9523320G>A			A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.G639	ENST00000378429.3	37	c.1917	CCDS13107.1	20																																																																																			PAK7	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000101349		0.522	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	28	0.00	0	G			9523320	9523320	-1	no_errors	ENST00000353224	ensembl	human	known	69_37n	silent	16	42.86	12	SNP	0.007	A
PIH1D3	139212	genome.wustl.edu	37	X	106456141	106456141	+	Silent	SNP	G	G	A			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chrX:106456141G>A	ENST00000372453.3	+	2	98	c.36G>A	c.(34-36)aaG>aaA	p.K12K	PIH1D3_ENST00000535523.1_Silent_p.K12K|PIH1D3_ENST00000336387.4_Silent_p.K12K	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	12																	AAAATATGAAGACAGAAAATA	0.323																																						dbGAP											0													65.0	62.0	63.0					X																	106456141		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"""sarcoma antigen NY-SAR-97"""		"""chromosome X open reading frame 41"""	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.36G>A	X.37:g.106456141G>A			D3DUX5|Q86WE1	Silent	SNP	NULL	p.K12	ENST00000372453.3	37	c.36	CCDS14528.1	X																																																																																			PIH1D3	-	NULL	ENSG00000080572		0.323	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D3	HGNC	protein_coding	OTTHUMT00000057832.1	57	0.00	0	G	NM_173494		106456141	106456141	+1	no_errors	ENST00000336387	ensembl	human	known	69_37n	silent	21	38.24	13	SNP	0.000	A
WDR74	54663	genome.wustl.edu	37	11	62609253	62609254	+	5'UTR	INS	-	-	A	rs551042308	byFrequency	TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr11:62609253_62609254insA	ENST00000525239.1	-	0	27_28				WDR74_ENST00000529106.1_5'Flank|WDR74_ENST00000525752.1_5'Flank|WDR74_ENST00000540620.1_5'Flank|WDR74_ENST00000278856.4_5'Flank|WDR74_ENST00000311713.7_5'Flank|RNU2-2P_ENST00000410396.1_RNA			Q6RFH5	WDR74_HUMAN	WD repeat domain 74						blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						atactacacttgatcttagcca	0.426																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.-511->T	11.37:g.62609253_62609254insA			A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	RNA	INS	-	NULL	ENST00000525239.1	37	NULL	CCDS44630.1	11																																																																																			RNU2-2	-	-	ENSG00000222328		0.426	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNU2-2	HGNC	protein_coding	OTTHUMT00000395678.1	16	0.00	0	-	NM_018093		62609253	62609254	-1	no_errors	ENST00000410396	ensembl	human	known	69_37n	rna	4	33.33	2	INS	1.000:1.000	A
SCN1A	6323	genome.wustl.edu	37	2	166850700	166850700	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr2:166850700C>G	ENST00000303395.4	-	25	4807	c.4808G>C	c.(4807-4809)gGa>gCa	p.G1603A	SCN1A_ENST00000409050.1_Missense_Mutation_p.G1575A|SCN1A_ENST00000423058.2_Missense_Mutation_p.G1603A|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1592A|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1603					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATATTCCATCCAATGGTAAA	0.323																																						dbGAP											0													76.0	65.0	69.0					2																	166850700		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4808G>C	2.37:g.166850700C>G	ENSP00000303540:p.Gly1603Ala		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.G1603A	ENST00000303395.4	37	c.4808	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045219	0.93685	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.98140	0.9386	M	0.64170	1.965	0.80722	D	1	P	0.42375	0.778	P	0.49799	0.622	D	0.97985	1.0351	10	0.44086	T	0.13	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	1592	P35498-2	.	A	1603;1603;1592;1575	ENSP00000407030:G1603A;ENSP00000303540:G1603A;ENSP00000364554:G1592A;ENSP00000386312:G1575A	ENSP00000303540:G1603A	G	-	2	0	SCN1A	166558946	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.688000	0.84153	2.788000	0.95919	0.650000	0.86243	GGA	SCN1A	-	pfam_Ion_trans_dom	ENSG00000144285		0.323	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	56	0.00	0	C	NM_006920		166850700	166850700	-1	no_errors	ENST00000303395	ensembl	human	known	69_37n	missense	24	41.46	17	SNP	1.000	G
SENP1	29843	genome.wustl.edu	37	12	48468348	48468348	+	Silent	SNP	T	T	A			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr12:48468348T>A	ENST00000004980.5	-	8	1177	c.699A>T	c.(697-699)tcA>tcT	p.S233S	SENP1_ENST00000448372.1_Silent_p.S233S|SENP1_ENST00000549518.1_Silent_p.S233S|SENP1_ENST00000549595.1_Silent_p.S233S|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Silent_p.S233S			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	233					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTTTAAACAGTGAGTCTTTCA	0.348																																						dbGAP											0													82.0	76.0	78.0					12																	48468348		1858	4098	5956	-	-	-	SO:0001819	synonymous_variant	0			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.699A>T	12.37:g.48468348T>A			A8K7P5|Q86XC8	Silent	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.S233	ENST00000004980.5	37	c.699	CCDS44868.2	12																																																																																			SENP1	-	NULL	ENSG00000079387		0.348	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1	55	0.00	0	T	NM_014554		48468348	48468348	-1	no_errors	ENST00000004980	ensembl	human	known	69_37n	silent	29	42.00	21	SNP	0.996	A
SIM2	6493	genome.wustl.edu	37	21	38095375	38095375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr21:38095375C>T	ENST00000290399.6	+	5	1100	c.487C>T	c.(487-489)Cga>Tga	p.R163*	SIM2_ENST00000430056.3_Nonsense_Mutation_p.R163*	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	163					cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTTCTTTCTTCGAATGAAATG	0.557																																						dbGAP											0													154.0	137.0	143.0					21																	38095375		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.487C>T	21.37:g.38095375C>T	ENSP00000290399:p.Arg163*		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Nonsense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd	p.R163*	ENST00000290399.6	37	c.487	CCDS13646.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.281562|6.281562	0.97440|0.97440	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	.|.	.|.	.|.	5.11|5.11	4.19|4.19	0.49359|0.49359	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63319	.|0.2501	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70008	.|-0.4990	.|3	0.02654|.	T|.	1|.	.|.	13.7996|13.7996	0.63192|0.63192	0.2757:0.7243:0.0:0.0|0.2757:0.7243:0.0:0.0	.|.	.|.	.|.	.|.	X|L	163|100	.|.	ENSP00000290399:R163X|.	R|S	+|+	1|2	2|0	SIM2|SIM2	37017245|37017245	0.700000|0.700000	0.27796|0.27796	0.879000|0.879000	0.34478|0.34478	0.978000|0.978000	0.69477|0.69477	1.409000|1.409000	0.34680|0.34680	2.375000|2.375000	0.81037|0.81037	0.563000|0.563000	0.77884|0.77884	CGA|TCG	SIM2	-	NULL	ENSG00000159263		0.557	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	46	0.00	0	C	NM_009586		38095375	38095375	+1	no_errors	ENST00000290399	ensembl	human	known	69_37n	nonsense	15	42.31	11	SNP	0.998	T
SMTN	6525	genome.wustl.edu	37	22	31487798	31487799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr22:31487798_31487799insC	ENST00000347557.2	+	11	1815_1816	c.1597_1598insC	c.(1597-1599)gccfs	p.A533fs	SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000333137.7_Frame_Shift_Ins_p.A533fs|SMTN_ENST00000358743.1_Frame_Shift_Ins_p.A533fs	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	533					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.S536fs*2(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTTCAGCCATGCCCCCCCCAGT	0.629																																						dbGAP											1	Insertion - Frameshift(1)	ovary(1)							,,,,	39,4217		2,35,2091					,,,,	3.4	1.0			43	90,8154		1,88,4033	no	frameshift,frameshift,frameshift,frameshift,frameshift	SMTN	NM_134270.2,NM_134269.2,NM_006932.4,NM_001207018.1,NM_001207017.1	,,,,	3,123,6124	A1A1,A1R,RR		1.0917,0.9164,1.032	,,,,	,,,,		129,12371				-	-	-	SO:0001589	frameshift_variant	0			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1605dupC	22.37:g.31487806_31487806dupC	ENSP00000328635:p.Ala533fs		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Frame_Shift_Ins	INS	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.S536fs	ENST00000347557.2	37	c.1597_1598	CCDS13886.1	22																																																																																			SMTN	-	NULL	ENSG00000183963		0.629	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	23	0.00	0	-	NM_134270		31487798	31487799	+1	no_errors	ENST00000347557	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	1.000:0.994	C
SNX18	112574	genome.wustl.edu	37	5	53815627	53815628	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr5:53815627_53815628insA	ENST00000326277.3	+	1	2035_2036	c.1845_1846insA	c.(1846-1848)aagfs	p.K616fs	SNX18_ENST00000343017.6_Intron|SNX18_ENST00000381410.4_Intron	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	616	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				ACTCTTTCTCGAAGGTTCAAAG	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1847dupA	5.37:g.53815629_53815629dupA	ENSP00000317332:p.Lys616fs		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Frame_Shift_Ins	INS	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.V616fs	ENST00000326277.3	37	c.1845_1846	CCDS3962.1	5																																																																																			SNX18	-	pirsf_Snx9	ENSG00000178996		0.436	SNX18-001	KNOWN	basic|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214072.2	26	0.00	0	-			53815627	53815628	+1	no_errors	ENST00000326277	ensembl	human	known	69_37n	frame_shift_ins	10	28.57	4	INS	0.000:0.000	A
TIGIT	201633	genome.wustl.edu	37	3	114012875	114012875	+	5'UTR	SNP	A	A	T			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr3:114012875A>T	ENST00000486257.1	+	0	224				TIGIT_ENST00000383671.3_5'UTR|TIGIT_ENST00000481065.1_Silent_p.P56P			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains						negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGAAGAGGCCACATCTGCTTC	0.567																																						dbGAP											0													28.0	27.0	28.0					3																	114012875		2059	4020	6079	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.-34A>T	3.37:g.114012875A>T			Q495A3|Q5JPD8|Q6MZS2|Q8N877	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.P56	ENST00000486257.1	37	c.168	CCDS2980.1	3																																																																																			TIGIT	-	NULL	ENSG00000181847		0.567	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGIT	HGNC	protein_coding	OTTHUMT00000354690.1	41	0.00	0	A	NM_173799		114012875	114012875	+1	no_errors	ENST00000481065	ensembl	human	putative	69_37n	silent	17	45.16	14	SNP	0.979	T
TPM4	7171	genome.wustl.edu	37	19	16186899	16186899	+	5'Flank	SNP	A	A	C			TCGA-EW-A1OX-01A-11D-A142-09	TCGA-EW-A1OX-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7828f9cf-aa93-44a0-8070-efdf90a677f0	f4652fab-76cf-4fde-8a9d-9e11fa8e7228	g.chr19:16186899A>C	ENST00000300933.4	+	0	0				TPM4_ENST00000538887.1_Missense_Mutation_p.T53P|TPM4_ENST00000344824.6_Missense_Mutation_p.T53P	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						ACTAAAAGGGACAGAGGACGA	0.612			T	ALK	ALCL																																	dbGAP		Dom	yes		19	19p13.1	7171	tropomyosin 4		L	0													35.0	36.0	36.0					19																	16186899		1568	3577	5145	-	-	-	SO:0001631	upstream_gene_variant	0				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134		19.37:g.16186899A>C	Exception_encountered		P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.T53P	ENST00000300933.4	37	c.157	CCDS12338.1	19	.	.	.	.	.	.	.	.	.	.	A	17.34	3.364752	0.61513	.	.	ENSG00000167460	ENST00000344824;ENST00000538887	D;D	0.88277	-2.36;-2.36	3.74	1.47	0.22746	.	4.049180	0.01289	U	0.009975	D	0.91771	0.7397	.	.	.	0.28352	N	0.920872	P	0.37985	0.613	P	0.51193	0.662	T	0.76680	-0.2870	9	0.66056	D	0.02	-2.6049	7.6773	0.28492	0.8105:0.0:0.1895:0.0	.	53	P67936-2	.	P	53	ENSP00000345230:T53P;ENSP00000439135:T53P	ENSP00000345230:T53P	T	+	1	0	TPM4	16047899	0.995000	0.38212	0.476000	0.27291	0.452000	0.32318	4.132000	0.57977	0.024000	0.15214	0.482000	0.46254	ACA	TPM4	-	pfam_Tropomyosin	ENSG00000167460		0.612	TPM4-002	KNOWN	basic|CCDS	protein_coding	TPM4	HGNC	protein_coding	OTTHUMT00000459673.2	25	0.00	0	A	NM_003290		16186899	16186899	+1	no_errors	ENST00000344824	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	1.000	C
