#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
EPS15L1	58513	genome.wustl.edu	37	19	16536019	16536019	+	Missense_Mutation	SNP	C	C	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:16536019C>T	ENST00000248070.6	-	9	806	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	EPS15L1_ENST00000455140.2_Missense_Mutation_p.V223I|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V223I|EPS15L1_ENST00000597937.1_Missense_Mutation_p.V223I|EPS15L1_ENST00000602009.1_Missense_Mutation_p.V69I|EPS15L1_ENST00000594975.1_Missense_Mutation_p.V223I	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	223	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGGACGGGGACGGCGCCAGGG	0.682																																																	0								ENSG00000127527						41.0	41.0	41.0					19																	16536019		2203	4299	6502	EPS15L1	SO:0001583	missense	0			-	HGNC	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.667G>A	19.37:g.16536019C>T	ENSP00000248070:p.Val223Ile	Somatic	0	24	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	13	58.06	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.V223I	ENST00000248070.6	37	c.667	CCDS32944.1	19	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333836	0.60853	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.32515	1.84;1.82;1.45	4.77	4.77	0.60923	.	0.065898	0.64402	D	0.000014	T	0.23451	0.0567	L	0.27053	0.805	0.53688	D	0.99997	P;B;D;D;P;P	0.53151	0.597;0.448;0.958;0.958;0.785;0.808	B;B;B;B;B;B	0.41271	0.079;0.1;0.352;0.352;0.121;0.338	T	0.02491	-1.1151	10	0.27082	T	0.32	.	16.9635	0.86279	0.0:1.0:0.0:0.0	.	223;223;222;223;223;223	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	I	223	ENSP00000393313:V223I;ENSP00000248070:V223I;ENSP00000440103:V223I	ENSP00000248070:V223I	V	-	1	0	EPS15L1	16397019	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	5.699000	0.68310	2.488000	0.83962	0.561000	0.74099	GTC	-	NULL		0.682	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	protein_coding	OTTHUMT00000461040.1	C	NM_021235	-		16536019	-1	no_errors	ENST00000455140	ensembl	human	known	74_37	missense	SNP	1.000	T
EPHA7	2045	genome.wustl.edu	37	6	93965643	93965643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr6:93965643delC	ENST00000369303.4	-	13	2469	c.2285delG	c.(2284-2286)cgcfs	p.R762fs		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	762	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAGAATATTGCGAGCTGCAAG	0.418																																																	0								ENSG00000135333						143.0	137.0	139.0					6																	93965643		2203	4300	6503	EPHA7	SO:0001589	frameshift_variant	0				HGNC	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2285delG	6.37:g.93965643delC	ENSP00000358309:p.Arg762fs	Somatic	0	32	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	9	18.18	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R762fs	ENST00000369303.4	37	c.2285	CCDS5031.1	6																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.418	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	protein_coding	OTTHUMT00000041545.1	C				93965643	-1	no_errors	ENST00000369303	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
NEAT1	283131	genome.wustl.edu	37	11	65211735	65211758	+	lincRNA	DEL	TGTGTGTGTGTGTGTGTGTGTGTG	TGTGTGTGTGTGTGTGTGTGTGTG	-	rs566595632|rs66756887|rs537406550	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	TGTGTGTGTGTGTGTGTGTGTGTG	TGTGTGTGTGTGTGTGTGTGTGTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr11:65211735_65211758delTGTGTGTGTGTGTGTGTGTGTGTG	ENST00000384994.1	+	0	0					NR_030343.1				nuclear paraspeckle assembly transcript 1 (non-protein coding)																		GTCCTCAGACtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtg	0.545																																																	0								ENSG00000245532																																			NEAT1			0				HGNC	AF080092		11q13.1	2013-11-01	2009-07-24	2009-07-24	ENSG00000245532	ENSG00000245532		"""Long non-coding RNAs"", ""-"""	30815	non-coding RNA	RNA, long non-coding	"""trophoblast derived non-protein coding RNA"", ""nuclear enriched abundant transcript 1"", ""long intergenic non-protein coding RNA 84"", ""virus inducible non-coding RNA"""	612769	"""non-protein coding RNA 84"""	NCRNA00084		9253601, 9858482, 12565840	Standard	NR_028272		Approved	TncRNA, MENepsilon/beta, LINC00084, VINC	uc010rog.2		OTTHUMG00000166321		11.37:g.65211735_65211758delTGTGTGTGTGTGTGTGTGTGTGTG		Somatic	NA	NA	NA		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000384994.1	37	NULL		11																																																																																			-	-		0.545	NEAT1-201	KNOWN	basic	miRNA	NEAT1	lincRNA		TGTGTGTGTGTGTGTGTGTGTGTG	NR_028272			65211758	+1	no_errors	ENST00000501122	ensembl	human	known	74_37	rna	DEL	0.004:0.008:0.012:0.015:0.018:0.020:0.023:0.024:0.026:0.027:0.027:0.028:0.028:0.027:0.027:0.026:0.024:0.023:0.020:0.018:0.015:0.012:0.008:0.008	-
LEMD2	221496	genome.wustl.edu	37	6	33744825	33744842	+	Splice_Site	DEL	GGACCACGTCTGCAGGAG	GGACCACGTCTGCAGGAG	-	rs552390259		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	GGACCACGTCTGCAGGAG	GGACCACGTCTGCAGGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr6:33744825_33744842delGGACCACGTCTGCAGGAG	ENST00000293760.5	-	8	1278_1286	c.1259_1267delCTCCTGCAGACGTGGTCC	c.(1258-1269)gctcctgcagac>gac	p.APA420del	LEMD2_ENST00000508327.1_Splice_Site_p.APA118del|LEMD2_ENST00000502643.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	420					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TAATGGTCCTGGACCACGTCTGCAGGAGAGAGCACACC	0.564																																																	0								ENSG00000161904																																			LEMD2	SO:0001630	splice_region_variant	0				HGNC		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1259-1CTCCTGCAGACGTGGTCC>-	6.37:g.33744825_33744842delGGACCACGTCTGCAGGAG		Somatic	NA	NA	NA		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B4DVH5|E7EVT2|Q5T972|Q5T974	Splice_Site	DEL	NA	NA	NA	NA	NA	NA	-	e8-1	ENST00000293760.5	37	c.1259-9_1259-1	CCDS4785.1	6																																																																																			-	-		0.564	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD2	protein_coding	OTTHUMT00000040209.3	GGACCACGTCTGCAGGAG	XM_166338		In_Frame_Del	33744842	-1	no_errors	ENST00000293760	ensembl	human	known	74_37	splice_site_del	DEL	1.000:0.979:1.000:1.000:1.000:1.000:1.000:0.955:0.995:1.000:1.000:0.981:0.209:0.054:0.005:0.007:0.000:0.000	-
ZNF676	163223	genome.wustl.edu	37	19	22363460	22363460	+	Silent	SNP	A	A	G	rs78757874		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:22363460A>G	ENST00000397121.2	-	3	1376	c.1059T>C	c.(1057-1059)acT>acC	p.T353T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTTATGTTTAGTAAGGATTG	0.398																																																	0								ENSG00000196109																																			ZNF676	SO:0001819	synonymous_variant	0			-	HGNC	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1059T>C	19.37:g.22363460A>G		Somatic	0	49	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	37	11.90	A8MVX5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T353	ENST00000397121.2	37	c.1059	CCDS42539.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	protein_coding	OTTHUMT00000464392.1	A	NM_001001411	rs78757874		22363460	-1	no_errors	ENST00000397121	ensembl	human	known	74_37	silent	SNP	0.000	G
GREB1	9687	genome.wustl.edu	37	2	11761063	11761063	+	Silent	SNP	C	C	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr2:11761063C>T	ENST00000381486.2	+	23	4377	c.4077C>T	c.(4075-4077)ctC>ctT	p.L1359L	GREB1_ENST00000396123.1_Silent_p.L357L|GREB1_ENST00000234142.5_Silent_p.L1359L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1359						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGCAGTTCCTCAGTGTCCTGT	0.527																																					Ovarian(39;850 945 2785 23371 33093)												0								ENSG00000196208						208.0	209.0	209.0					2																	11761063		1991	4165	6156	GREB1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4077C>T	2.37:g.11761063C>T		Somatic	0	39	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_P-loop_NTPase	p.L1359	ENST00000381486.2	37	c.4077	CCDS42655.1	2																																																																																			-	superfamily_P-loop_NTPase		0.527	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	protein_coding	OTTHUMT00000280490.1	C	NM_014668	-		11761063	+1	no_errors	ENST00000234142	ensembl	human	known	74_37	silent	SNP	1.000	T
ABCD1	215	genome.wustl.edu	37	X	152994946	152994946	+	Intron	SNP	A	A	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chrX:152994946A>T	ENST00000218104.3	+	2	1480				ABCD1_ENST00000370129.4_Missense_Mutation_p.Q202L	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1						alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGAGGGCCCAACTCAGCCAG	0.667																																																	0								ENSG00000101986																																			ABCD1	SO:0001627	intron_variant	0			-	HGNC	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1081+79A>T	X.37:g.152994946A>T		Somatic	0	25	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	Q6GTZ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_Peroxi_TM	p.Q202L	ENST00000218104.3	37	c.605	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	a	0.136	-1.107834	0.01813	.	.	ENSG00000101986	ENST00000370129	D	0.99311	-5.73	2.59	-3.36	0.04913	.	.	.	.	.	D	0.96112	0.8733	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.93186	0.6579	5	.	.	.	.	0.2636	0.00222	0.4046:0.2037:0.156:0.2357	.	.	.	.	L	202	ENSP00000359147:Q202L	.	Q	+	2	0	ABCD1	152648140	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.252000	0.01185	-0.921000	0.03794	0.237000	0.17872	CAA	-	NULL		0.667	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	protein_coding	OTTHUMT00000061041.1	A	NM_000033	-		152994946	+1	no_errors	ENST00000370129	ensembl	human	putative	74_37	missense	SNP	0.000	T
AKR1C3	8644	genome.wustl.edu	37	10	5147847	5147847	+	Missense_Mutation	SNP	C	C	G			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr10:5147847C>G	ENST00000380554.3	+	8	1559	c.907C>G	c.(907-909)Ctc>Gtc	p.L303V	AKR1C3_ENST00000605149.1_Missense_Mutation_p.L280V|AKR1C3_ENST00000439082.2_Missense_Mutation_p.L184V	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	303					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	AGACAGAAATCTCCACTATTT	0.363																																																	0								ENSG00000196139						106.0	109.0	108.0					10																	5147847		2203	4300	6503	AKR1C3	SO:0001583	missense	0			-	HGNC	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.907C>G	10.37:g.5147847C>G	ENSP00000369927:p.Leu303Val	Somatic	0	59	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	42	35.38	A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.L303V	ENST00000380554.3	37	c.907	CCDS7063.1	10	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.797345	0.00617	.	.	ENSG00000196139	ENST00000439082;ENST00000380554	T;T	0.51071	0.72;0.72	2.48	-4.97	0.03029	NADP-dependent oxidoreductase domain (2);	2.064350	0.02725	N	0.114396	T	0.29256	0.0728	L	0.31120	0.905	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.20806	-1.0264	10	0.11485	T	0.65	.	3.9578	0.09398	0.3363:0.3088:0.0:0.3549	.	184;303;303	B4DL37;P42330;Q2XPP3	.;AK1C3_HUMAN;.	V	184;303	ENSP00000401327:L184V;ENSP00000369927:L303V	ENSP00000369927:L303V	L	+	1	0	AKR1C3	5137847	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-3.382000	0.00490	-2.537000	0.00488	-0.658000	0.03865	CTC	-	superfamily_NADP_OxRdtase_dom		0.363	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C3	protein_coding	OTTHUMT00000046533.2	C	NM_003739	-		5147847	+1	no_errors	ENST00000380554	ensembl	human	known	74_37	missense	SNP	0.035	G
ZNF408	79797	genome.wustl.edu	37	11	46726962	46726962	+	Missense_Mutation	SNP	G	G	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr11:46726962G>A	ENST00000311764.2	+	5	1942	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTCACGAGCGCCTGCACTCC	0.657																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0								ENSG00000175213						24.0	24.0	24.0					11																	46726962		2201	4299	6500	ZNF408	SO:0001583	missense	0			-	HGNC	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1712G>A	11.37:g.46726962G>A	ENSP00000309606:p.Arg571His	Somatic	0	33	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	3	82.35		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R571H	ENST00000311764.2	37	c.1712	CCDS7923.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366692	0.82463	.	.	ENSG00000175213	ENST00000311764	T	0.25749	1.78	5.23	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000535	T	0.38957	0.1060	M	0.70787	2.145	0.43050	D	0.994651	D;D	0.61697	0.99;0.99	P;P	0.55011	0.766;0.766	T	0.34153	-0.9840	10	0.87932	D	0	-33.5023	9.7171	0.40281	0.0761:0.0:0.7852:0.1387	.	563;571	B4DXY4;Q9H9D4	.;ZN408_HUMAN	H	571	ENSP00000309606:R571H	ENSP00000309606:R571H	R	+	2	0	ZNF408	46683538	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	5.552000	0.67281	2.439000	0.82584	0.462000	0.41574	CGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	protein_coding	OTTHUMT00000390485.2	G	NM_024741	-		46726962	+1	no_errors	ENST00000311764	ensembl	human	known	74_37	missense	SNP	1.000	A
LINC01317	104355287	genome.wustl.edu	37	2	33951639	33951640	+	lincRNA	INS	-	-	GCTAGG	rs3217586|rs70940218	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr2:33951639_33951640insGCTAGG	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							ACTAAGGCACAGCTAGGGCGGG	0.619														1982	0.395767	0.3185	0.4856	5008	,	,		14411	0.3948		0.4245	False		,,,				2504	0.408																0								ENSG00000239649																																			MYADML			0				HGNC																													2.37:g.33951640_33951645dupGCTAGG		Somatic	NA	NA	NA		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			-	-		0.619	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	lincRNA	OTTHUMT00000325406.1	-				33951640	-1	no_errors	ENST00000474610	ensembl	human	known	74_37	rna	INS	0.441:0.327	GCTAGG
SPATA20	64847	genome.wustl.edu	37	17	48628217	48628217	+	Nonsense_Mutation	SNP	C	C	G			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr17:48628217C>G	ENST00000356488.4	+	10	1357	c.1274C>G	c.(1273-1275)tCa>tGa	p.S425*	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Nonsense_Mutation_p.S441*|SPATA20_ENST00000393244.3_Nonsense_Mutation_p.S381*	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	425					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGCTGACCTCAGGCCAGCTC	0.637											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000006282						69.0	78.0	75.0					17																	48628217		2203	4298	6501	SPATA20	SO:0001587	stop_gained	0			-	HGNC		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1274C>G	17.37:g.48628217C>G	ENSP00000348878:p.Ser425*	Somatic	0	43	0.00	119	0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	23	52.08	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold	p.S441*	ENST00000356488.4	37	c.1322	CCDS58563.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.588483	0.96590	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	.	.	.	5.64	4.59	0.56863	.	0.278041	0.34932	N	0.003575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-32.5371	3.6851	0.08326	0.0:0.6591:0.0:0.3409	.	.	.	.	X	441;425;381	.	ENSP00000006658:S441X	S	+	2	0	SPATA20	45983216	0.008000	0.16893	0.923000	0.36655	0.794000	0.44872	2.050000	0.41297	2.664000	0.90586	0.655000	0.94253	TCA	-	superfamily_6-hairpin_glycosidase-like		0.637	SPATA20-004	KNOWN	basic|CCDS	protein_coding	SPATA20	protein_coding	OTTHUMT00000367651.1	C	NM_022827	-		48628217	+1	no_errors	ENST00000006658	ensembl	human	known	74_37	nonsense	SNP	0.854	G
LINC00200	399706	genome.wustl.edu	37	10	1205784	1205784	+	lincRNA	SNP	G	G	A	rs12762051		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr10:1205784G>A	ENST00000425630.1	+	0	77					NR_015376.2				long intergenic non-protein coding RNA 200																		ATGAGGGATGGCGCCGGCGCA	0.662																																																	0								ENSG00000229205						19.0	23.0	22.0					10																	1205784		692	1591	2283	LINC00200			0			-	HGNC	AK097673		10p15.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000229205	ENSG00000229205		"""Long non-coding RNAs"""	30974	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 139"", ""non-protein coding RNA 200"""	C10orf139, NCRNA00200			Standard	NR_015376		Approved	FLJ40354	uc010qag.1		OTTHUMG00000017539		10.37:g.1205784G>A		Somatic	0	36	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000425630.1	37	NULL		10																																																																																			-	-		0.662	LINC00200-001	KNOWN	basic	lincRNA	LINC00200	lincRNA	OTTHUMT00000046417.2	G	NR_015376	rs12762051		1205784	+1	no_errors	ENST00000425630	ensembl	human	known	74_37	rna	SNP	0.008	A
KBTBD4	55709	genome.wustl.edu	37	11	47594902	47594902	+	Silent	SNP	G	G	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr11:47594902G>A	ENST00000526005.1	-	4	1290	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	KBTBD4_ENST00000395288.2_Silent_p.I379I|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000430070.2_Silent_p.I395I|KBTBD4_ENST00000533290.1_Silent_p.I404I			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	379										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GTAAGTAGATGATCCCGTTGA	0.498																																																	0								ENSG00000123444						116.0	110.0	112.0					11																	47594902		2201	4298	6499	KBTBD4	SO:0001819	synonymous_variant	0			-	HGNC	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1137C>T	11.37:g.47594902G>A		Somatic	0	40	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	9	70.00	D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.I395	ENST00000526005.1	37	c.1185	CCDS7940.1	11																																																																																			-	NULL		0.498	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KBTBD4	protein_coding	OTTHUMT00000391763.1	G	NM_016506	-		47594902	-1	no_errors	ENST00000430070	ensembl	human	known	74_37	silent	SNP	1.000	A
MYH9	4627	genome.wustl.edu	37	22	36696962	36696962	+	Missense_Mutation	SNP	C	C	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr22:36696962C>T	ENST00000216181.5	-	22	3003	c.2773G>A	c.(2773-2775)Gag>Aag	p.E925K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	925					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCTCCTCCTCCACCCTGGCC	0.642			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0								ENSG00000100345						74.0	80.0	78.0					22																	36696962		2203	4300	6503	MYH9	SO:0001583	missense	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	-	HGNC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2773G>A	22.37:g.36696962C>T	ENSP00000216181:p.Glu925Lys	Somatic	0	33	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	56	27.27	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,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.E925K	ENST00000216181.5	37	c.2773	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.726107	0.96847	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.75050	-0.9	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	M	0.91663	3.23	0.80722	D	1	P	0.47545	0.897	P	0.53266	0.722	D	0.89787	0.3965	10	0.87932	D	0	.	19.0894	0.93221	0.0:1.0:0.0:0.0	.	925	P35579	MYH9_HUMAN	K	789;925	ENSP00000216181:E925K	ENSP00000216181:E925K	E	-	1	0	MYH9	35026908	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.818000	0.86416	2.604000	0.88044	0.655000	0.94253	GAG	-	NULL		0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	protein_coding	OTTHUMT00000259110.3	C	NM_002473	-		36696962	-1	no_errors	ENST00000216181	ensembl	human	known	74_37	missense	SNP	1.000	T
CTAGE4	100128553	genome.wustl.edu	37	7	143882559	143882559	+	Missense_Mutation	SNP	A	A	G	rs199840651	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr7:143882559A>G	ENST00000486333.1	+	1	2001	c.1963A>G	c.(1963-1965)Agg>Ggg	p.R655G		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	655				R -> G (in Ref. 3; AAN77609). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TAAAATGGATAGGTCAATGCC	0.383																																																	0								ENSG00000225932						1.0	1.0	1.0					7																	143882559		6	28	34	CTAGE4	SO:0001583	missense	0			-	HGNC	AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 4"""	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.1963A>G	7.37:g.143882559A>G	ENSP00000419539:p.Arg655Gly	Somatic	0	13	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33	A8K871|O95046	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_tRNA-bd_arm	p.R655G	ENST00000486333.1	37	c.1963	CCDS55176.1	7	.	.	.	.	.	.	.	.	.	.	.	1.204	-0.631620	0.03584	.	.	ENSG00000225932	ENST00000486333	T	0.38722	1.12	.	.	.	.	.	.	.	.	T	0.04363	0.0120	N	0.00013	-2.935	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23940	-1.0174	6	0.02654	T	1	.	.	.	.	.	655	Q8IX94	CTGE4_HUMAN	G	655	ENSP00000419539:R655G	ENSP00000419539:R655G	R	+	1	2	CTAGE4	143513492	0.344000	0.24827	0.052000	0.19188	0.052000	0.14988	-0.198000	0.09505	-1.345000	0.02214	-1.352000	0.01234	AGG	-	NULL		0.383	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	protein_coding	OTTHUMT00000349970.1	A	NM_198495	rs199840651		143882559	+1	no_errors	ENST00000486333	ensembl	human	known	74_37	missense	SNP	0.062	G
ASPM	259266	genome.wustl.edu	37	1	197072972	197072972	+	Frame_Shift_Del	DEL	T	T	-	rs143289232		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr1:197072972delT	ENST00000367409.4	-	18	5665	c.5409delA	c.(5407-5409)aaafs	p.K1803fs	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1803	IQ 8. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGTAGCTGCTTTTTTGACTT	0.353																																																	0								ENSG00000066279						101.0	102.0	101.0					1																	197072972		2203	4299	6502	ASPM	SO:0001589	frameshift_variant	0				HGNC	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5409delA	1.37:g.197072972delT	ENSP00000356379:p.Lys1803fs	Somatic	0	48	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.A1804fs	ENST00000367409.4	37	c.5409	CCDS1389.1	1																																																																																			-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	protein_coding	OTTHUMT00000088256.1	T	NM_018136			197072972	-1	no_errors	ENST00000367409	ensembl	human	known	74_37	frame_shift_del	DEL	0.988	-
NOLC1	9221	genome.wustl.edu	37	10	103920666	103920668	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr10:103920666_103920668delTTC	ENST00000605788.1	+	10	1792_1794	c.1557_1559delTTC	c.(1555-1560)agttct>agt	p.519_520SS>S	NOLC1_ENST00000603742.1_In_Frame_Del_p.238_239SS>S|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000405356.1_In_Frame_Del_p.529_530SS>S|NOLC1_ENST00000488254.2_In_Frame_Del_p.520_521SS>S	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	519	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GCAGCAACAGTTCTTCTTCTGAT	0.537																																																	0								ENSG00000166197			7,4255		2,3,2126						2.5	0.8			66	21,8233		9,3,4115	no	coding	NOLC1	NM_004741.3		11,6,6241	A1A1,A1R,RR		0.2544,0.1642,0.2237				28,12488				NOLC1	SO:0001651	inframe_deletion	0				HGNC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1557_1559delTTC	10.37:g.103920672_103920674delTTC	ENSP00000474710:p.Ser522del	Somatic	0	20	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SRP40_C,pfscan_LisH_dimerisation	p.S532in_frame_del	ENST00000605788.1	37	c.1587_1589	CCDS7530.1	10																																																																																			-	NULL		0.537	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	protein_coding	OTTHUMT00000050012.2	TTC	NM_004741			103920668	+1	no_errors	ENST00000405356	ensembl	human	known	74_37	in_frame_del	DEL	0.238:0.344:0.376	-
MGAT2	4247	genome.wustl.edu	37	14	50089988	50089989	+	3'UTR	INS	-	-	T	rs573436485	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr14:50089988_50089989insT	ENST00000305386.2	+	0	2500_2501				RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase						cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CAGTGGTTTTGTTTTTTTTTTT	0.272																																																	0								ENSG00000258377																																			RP11-649E7.5	SO:0001624	3_prime_UTR_variant	0				Clone_based_vega_gene	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.*659->T	14.37:g.50089999_50089999dupT		Somatic	0	30	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	B3KPC5|B3KQM0	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000305386.2	37	NULL	CCDS9690.1	14																																																																																			-	-		0.272	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258377	protein_coding	OTTHUMT00000276807.1	-	NM_002408			50089989	-1	no_errors	ENST00000555043	ensembl	human	known	74_37	rna	INS	0.004:0.003	T
TRIP10	9322	genome.wustl.edu	37	19	6744604	6744604	+	Missense_Mutation	SNP	G	G	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:6744604G>T	ENST00000313244.9	+	8	717	c.682G>T	c.(682-684)Ggt>Tgt	p.G228C	TRIP10_ENST00000313285.8_Missense_Mutation_p.G228C|TRIP10_ENST00000596758.1_Missense_Mutation_p.G228C|TRIP10_ENST00000600428.1_Missense_Mutation_p.G120C			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	228	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CACCCGCCTGGGTGCCGGGTA	0.597																																																	0								ENSG00000125733						104.0	115.0	111.0					19																	6744604		2203	4300	6503	TRIP10	SO:0001583	missense	0			-	HGNC	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.682G>T	19.37:g.6744604G>T	ENSP00000320117:p.Gly228Cys	Somatic	0	44	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	33	35.29	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.G228C	ENST00000313244.9	37	c.682		19	.	.	.	.	.	.	.	.	.	.	G	12.59	1.985045	0.35036	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.43688	0.94;2.51	4.97	3.85	0.44370	.	0.119241	0.56097	D	0.000025	T	0.52645	0.1747	L	0.42245	1.32	0.42266	D	0.992036	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72625	0.978;0.939;0.927	T	0.54583	-0.8272	10	0.72032	D	0.01	-40.782	10.7729	0.46334	0.0:0.1927:0.8073:0.0	.	228;228;228	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	C	228	ENSP00000320493:G228C;ENSP00000320117:G228C	ENSP00000320117:G228C	G	+	1	0	TRIP10	6695604	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	3.007000	0.49536	2.460000	0.83146	0.462000	0.41574	GGT	-	NULL		0.597	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	protein_coding	OTTHUMT00000317129.2	G		-		6744604	+1	no_errors	ENST00000313244	ensembl	human	known	74_37	missense	SNP	1.000	T
ZNF799	90576	genome.wustl.edu	37	19	12502914	12502914	+	Missense_Mutation	SNP	C	C	G			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:12502914C>G	ENST00000430385.3	-	4	498	c.298G>C	c.(298-300)Gta>Cta	p.V100L	CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.V100L|ZNF799_ENST00000419318.1_Missense_Mutation_p.V68L	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TATGGACCTACTCCAGGAAGA	0.403																																																	0								ENSG00000196466						131.0	121.0	124.0					19																	12502914		2203	4300	6503	ZNF799	SO:0001583	missense	0			-	HGNC	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.298G>C	19.37:g.12502914C>G	ENSP00000411084:p.Val100Leu	Somatic	0	63	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.V100L	ENST00000430385.3	37	c.298	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	C	7.235	0.600052	0.13939	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08720	3.06;3.27	1.31	-1.3	0.09259	.	.	.	.	.	T	0.05364	0.0142	N	0.21324	0.655	0.09310	N	1	P	0.36315	0.547	B	0.38562	0.276	T	0.34576	-0.9823	9	0.87932	D	0	.	1.8793	0.03225	0.3192:0.451:0.0:0.2298	.	100	Q96GE5	ZN799_HUMAN	L	68;100	ENSP00000415278:V68L;ENSP00000411084:V100L	ENSP00000415278:V68L	V	-	1	0	ZNF799	12363914	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.023000	0.12456	-0.320000	0.08640	-0.450000	0.05554	GTA	-	NULL		0.403	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	protein_coding	OTTHUMT00000344099.2	C	NM_001080821	-		12502914	-1	no_errors	ENST00000430385	ensembl	human	known	74_37	missense	SNP	0.001	G
SDF2	6388	genome.wustl.edu	37	17	26976212	26976212	+	Missense_Mutation	SNP	C	C	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr17:26976212C>T	ENST00000247020.4	-	3	729	c.431G>A	c.(430-432)aGa>aAa	p.R144K	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	144	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CTCACCATCTCTCACCCAGTA	0.478																																																	0								ENSG00000132581						148.0	129.0	135.0					17																	26976212		2203	4300	6503	SDF2	SO:0001583	missense	0			-	HGNC	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.431G>A	17.37:g.26976212C>T	ENSP00000247020:p.Arg144Lys	Somatic	0	37	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	18	48.57	Q9BQ79	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	p.R144K	ENST00000247020.4	37	c.431	CCDS11238.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.038013	0.97226	.	.	ENSG00000132581	ENST00000247020	D	0.83755	-1.76	5.64	5.64	0.86602	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.90123	0.6914	M	0.69463	2.115	0.80722	D	1	D	0.60575	0.988	D	0.67382	0.951	D	0.88202	0.2884	10	0.39692	T	0.17	-20.6724	20.1418	0.98058	0.0:1.0:0.0:0.0	.	144	Q99470	SDF2_HUMAN	K	144	ENSP00000247020:R144K	ENSP00000247020:R144K	R	-	2	0	SDF2	24000339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.729000	0.68538	2.831000	0.97527	0.644000	0.83932	AGA	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif		0.478	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDF2	protein_coding	OTTHUMT00000255965.2	C	NM_006923	-		26976212	-1	no_errors	ENST00000247020	ensembl	human	known	74_37	missense	SNP	1.000	T
NAV1	89796	genome.wustl.edu	37	1	201592613	201592613	+	Missense_Mutation	SNP	T	T	C			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr1:201592613T>C	ENST00000593583.1	+	1	601	c.601T>C	c.(601-603)Tct>Cct	p.S201P	NAV1_ENST00000367302.1_5'UTR																							GTGGGCTTCCTCTCCAGTCTG	0.582																																																	0								ENSG00000269690																																			AC096677.1	SO:0001583	missense	0			-	Clone_based_ensembl_gene																												ENST00000593583.1:c.601T>C	1.37:g.201592613T>C	ENSP00000471857:p.Ser201Pro	Somatic	0	46	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	6	72.73		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S201P	ENST00000593583.1	37	c.601		1																																																																																			-	NULL		0.582	AC096677.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000269690	protein_coding		T		-		201592613	+1	no_errors	ENST00000593583	ensembl	human	known	74_37	missense	SNP	0.167	C
AC008060.7	0	genome.wustl.edu	37	7	155174828	155174829	+	Frame_Shift_Ins	INS	-	-	GTTTGAGTGTGCATGAGGGTGTGAATGTGTACATGTACACGAATGTGAGTGTGCATGAGCGTGA			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr7:155174828_155174829insGTTTGAGTGTGCATGAGGGTGTGAATGTGTACATGTACACGAATGTGAGTGTGCATGAGCGTGA	ENST00000401499.1	+	1	58_59	c.10_11insGTTTGAGTGTGCATGAGGGTGTGAATGTGTACATGTACACGAATGTGAGTGTGCATGAGCGTGA	c.(10-12)agcfs	p.-4fs																								catgagcgtgagcgtgcgtgtg	0.609																																																	0								ENSG00000218672																																			AC008060.7	SO:0001589	frameshift_variant	0				Clone_based_vega_gene																												Exception_encountered	7.37:g.155174828_155174829insGTTTGAGTGTGCATGAGGGTGTGAATGTGTACATGTACACGAATGTGAGTGTGCATGAGCGTGA	ENSP00000384676:p.Ser4fs	Somatic	NA	NA	NA		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.V5fs	ENST00000401499.1	37	c.10_11		7																																																																																			-	NULL		0.609	AC008060.7-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000218672	protein_coding	OTTHUMT00000322332.1	-				155174829	+1	no_errors	ENST00000401499	ensembl	human	putative	74_37	frame_shift_ins	INS	0.000:0.000	GTTTGAGTGTGCATGAGGGTGTGAATGTGTACATGTACACGAATGTGAGTGTGCATGAGCGTGA
ANXA7	310	genome.wustl.edu	37	10	75135834	75135834	+	3'UTR	DEL	A	A	-			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr10:75135834delA	ENST00000372921.5	-	0	1476					NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7						autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ttttttcattaaaaaaaaaaa	0.408																																																	0								ENSG00000138279						17.0	18.0	18.0					10																	75135834		2195	4277	6472	ANXA7	SO:0001624	3_prime_UTR_variant	0				HGNC	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.*19T>-	10.37:g.75135834delA		Somatic	0	19	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	Q5F2H3|Q5T0M6|Q5T0M7	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000372921.5	37	NULL	CCDS7325.1	10																																																																																			-	-		0.408	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA7	protein_coding	OTTHUMT00000048646.2	A	NM_001156			75135834	-1	no_errors	ENST00000463788	ensembl	human	known	74_37	rna	DEL	0.003	-
RGPD3	653489	genome.wustl.edu	37	2	107039543	107039543	+	Missense_Mutation	SNP	G	G	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr2:107039543G>A	ENST00000409886.3	-	20	4967	c.4880C>T	c.(4879-4881)aCg>aTg	p.T1627M	RGPD3_ENST00000304514.7_Missense_Mutation_p.T1627M	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1627					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGATTCTTCCGTTGGAAAGGA	0.338																																																	0								ENSG00000153165						1.0	1.0	1.0					2																	107039543		64	100	164	RGPD3	SO:0001583	missense	0			-	HGNC		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4880C>T	2.37:g.107039543G>A	ENSP00000386588:p.Thr1627Met	Somatic	0	70	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	34	42.37	B8ZZM4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.T1627M	ENST00000409886.3	37	c.4880	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	0.124	-1.121815	0.01785	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.39592	1.07;1.07	2.2	0.948	0.19561	.	.	.	.	.	T	0.22399	0.0540	N	0.14661	0.345	0.09310	N	0.999998	D	0.58268	0.982	B	0.42062	0.374	T	0.10567	-1.0624	9	0.29301	T	0.29	-5.2545	6.5164	0.22250	0.0:0.0:0.5265:0.4735	.	1627	A6NKT7	RGPD3_HUMAN	M	1;1627;994;1627	ENSP00000386588:T1627M;ENSP00000303659:T1627M	ENSP00000303659:T1627M	T	-	2	0	RGPD3	106405975	0.613000	0.27009	0.248000	0.24265	0.537000	0.34900	0.942000	0.29017	0.098000	0.17522	0.186000	0.17326	ACG	-	NULL		0.338	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	protein_coding	OTTHUMT00000329975.1	G	XM_929931	-		107039543	-1	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	SNP	0.497	A
SORBS3	10174	genome.wustl.edu	37	8	22424623	22424623	+	Missense_Mutation	SNP	G	G	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr8:22424623G>T	ENST00000240123.7	+	16	1623	c.1240G>T	c.(1240-1242)Gac>Tac	p.D414Y	RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_3'UTR|SORBS3_ENST00000428103.1_Missense_Mutation_p.D72Y	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	414	Binds to vinculin.|SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAAGGAGGTGGACAAGAACTG	0.597																																																	0								ENSG00000120896						86.0	81.0	82.0					8																	22424623		2203	4300	6503	SORBS3	SO:0001583	missense	0			-	HGNC		CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1240G>T	8.37:g.22424623G>T	ENSP00000240123:p.Asp414Tyr	Somatic	0	25	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	13	60.61	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.D414Y	ENST00000240123.7	37	c.1240	CCDS6031.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.304970|5.304970	0.95601|0.95601	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000240123;ENST00000523900;ENST00000428103;ENST00000518912;ENST00000523965;ENST00000522721;ENST00000523348|ENST00000521554	T;T;T;T;T;T;T|.	0.37058|.	1.22;1.22;1.22;1.22;1.22;1.22;1.22|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Src homology-3 domain (3);Variant SH3 (1);|.	0.000000|.	0.52532|.	D|.	0.000073|.	D|D	0.85423|0.85423	0.5693|0.5693	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.88060|0.88060	0.2793|0.2793	10|5	0.87932|.	D|.	0|.	-27.2924|-27.2924	16.8192|16.8192	0.85741|0.85741	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	414|.	O60504|.	VINEX_HUMAN|.	Y|V	414;72;72;72;72;72;25|85	ENSP00000240123:D414Y;ENSP00000431128:D72Y;ENSP00000408476:D72Y;ENSP00000429887:D72Y;ENSP00000429764:D72Y;ENSP00000429479:D72Y;ENSP00000428678:D25Y|.	ENSP00000240123:D414Y|.	D|G	+|+	1|2	0|0	SORBS3|SORBS3	22480568|22480568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	9.325000|9.325000	0.96381|0.96381	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GAC|GGA	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain		0.597	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORBS3	protein_coding	OTTHUMT00000254647.3	G	NM_005775	-		22424623	+1	no_errors	ENST00000240123	ensembl	human	known	74_37	missense	SNP	1.000	T
SLC41A3	54946	genome.wustl.edu	37	3	125731511	125731511	+	Missense_Mutation	SNP	G	G	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr3:125731511G>T	ENST00000315891.6	-	9	1290	c.1052C>A	c.(1051-1053)cCc>cAc	p.P351H	SLC41A3_ENST00000383598.2_Missense_Mutation_p.P325H|SLC41A3_ENST00000346785.5_Missense_Mutation_p.P315H|SLC41A3_ENST00000360370.4_Missense_Mutation_p.P351H|SLC41A3_ENST00000508835.1_Missense_Mutation_p.P234H	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	351						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CATCTGGAGGGGCAGGACGCC	0.512																																																	0								ENSG00000114544						162.0	156.0	158.0					3																	125731511		2203	4300	6503	SLC41A3	SO:0001583	missense	0			-	HGNC		CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1052C>A	3.37:g.125731511G>T	ENSP00000326070:p.Pro351His	Somatic	0	44	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase	p.P351H	ENST00000315891.6	37	c.1052	CCDS33843.1	3	.	.	.	.	.	.	.	.	.	.	G	16.13	3.037151	0.54896	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.43	5.43	0.79202	MgtE magnesium transporter, integral membrane (1);	0.048341	0.85682	D	0.000000	T	0.63129	0.2485	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998	T	0.70153	-0.4950	10	0.72032	D	0.01	-0.0177	16.7188	0.85405	0.0:0.0:1.0:0.0	.	234;351;315;351;325	B7Z4Y2;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;S41A3_HUMAN;.	H	351;315;325;342;351;234	ENSP00000353533:P351H;ENSP00000264471:P315H;ENSP00000373092:P325H;ENSP00000326070:P351H;ENSP00000427409:P234H	ENSP00000326070:P351H	P	-	2	0	SLC41A3	127214201	1.000000	0.71417	0.383000	0.26132	0.003000	0.03518	8.609000	0.90898	2.541000	0.85698	0.591000	0.81541	CCC	-	pfam_SLC41_membr_dom		0.512	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	protein_coding	OTTHUMT00000370886.1	G	NM_017836	-		125731511	-1	no_errors	ENST00000315891	ensembl	human	known	74_37	missense	SNP	0.994	T
TXNDC16	57544	genome.wustl.edu	37	14	52985905	52985905	+	Missense_Mutation	SNP	C	C	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr14:52985905C>T	ENST00000281741.4	-	7	870	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	167					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ATTCCAATGGCTCTTACATAT	0.308																																																	0								ENSG00000087301						85.0	89.0	88.0					14																	52985905		2203	4288	6491	TXNDC16	SO:0001583	missense	0			-	HGNC	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.499G>A	14.37:g.52985905C>T	ENSP00000281741:p.Ala167Thr	Somatic	0	28	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	14	56.25	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.A167T	ENST00000281741.4	37	c.499	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593381	0.86953	.	.	ENSG00000087301	ENST00000281741	T	0.22336	1.96	5.38	5.38	0.77491	.	0.155551	0.56097	D	0.000024	T	0.44973	0.1319	M	0.69823	2.125	0.47994	D	0.999565	D;D	0.76494	0.996;0.999	P;D	0.64144	0.837;0.922	T	0.40850	-0.9541	10	0.72032	D	0.01	-30.9457	16.6369	0.85061	0.0:1.0:0.0:0.0	.	162;167	B7ZME4;Q9P2K2	.;TXD16_HUMAN	T	167	ENSP00000281741:A167T	ENSP00000281741:A167T	A	-	1	0	TXNDC16	52055655	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.264000	0.65513	2.523000	0.85059	0.655000	0.94253	GCC	-	NULL		0.308	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	protein_coding	OTTHUMT00000411681.1	C	XM_051699	-		52985905	-1	no_errors	ENST00000281741	ensembl	human	known	74_37	missense	SNP	1.000	T
ZNF718	255403	genome.wustl.edu	37	4	155179	155179	+	lincRNA	SNP	G	G	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr4:155179G>A	ENST00000510175.1	+	0	614							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGTGGTAAAGGCTTTACTCGG	0.368																																																	0								ENSG00000250312						27.0	31.0	29.0					4																	155179		2134	4264	6398	ZNF718			0			-	HGNC	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155179G>A		Somatic	0	20	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	Q3SXZ4|Q3SXZ5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000510175.1	37	NULL		4																																																																																			-	-		0.368	ZNF718-002	KNOWN	basic	lincRNA	ZNF718	lincRNA	OTTHUMT00000357865.3	G	NM_001039127	-		155179	+1	no_errors	ENST00000400172	ensembl	human	known	74_37	rna	SNP	0.007	A
LINC00200	399706	genome.wustl.edu	37	10	1205788	1205788	+	lincRNA	SNP	C	C	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr10:1205788C>A	ENST00000425630.1	+	0	81					NR_015376.2				long intergenic non-protein coding RNA 200																		GGGATGGCGCCGGCGCAGGCC	0.667																																																	0								ENSG00000229205						21.0	25.0	24.0					10																	1205788		692	1591	2283	LINC00200			0			-	HGNC	AK097673		10p15.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000229205	ENSG00000229205		"""Long non-coding RNAs"""	30974	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 139"", ""non-protein coding RNA 200"""	C10orf139, NCRNA00200			Standard	NR_015376		Approved	FLJ40354	uc010qag.1		OTTHUMG00000017539		10.37:g.1205788C>A		Somatic	0	39	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000425630.1	37	NULL		10																																																																																			-	-		0.667	LINC00200-001	KNOWN	basic	lincRNA	LINC00200	lincRNA	OTTHUMT00000046417.2	C	NR_015376	-		1205788	+1	no_errors	ENST00000425630	ensembl	human	known	74_37	rna	SNP	0.003	A
CCAR2	57805	genome.wustl.edu	37	8	22472255	22472256	+	Intron	INS	-	-	TGCTGCCTTCATCCTGATGGGT	rs71299322|rs35416390|rs3830254	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr8:22472255_22472256insTGCTGCCTTCATCCTGATGGGT	ENST00000308511.4	+	11	1290				CCAR2_ENST00000520861.1_Intron|CCAR2_ENST00000389279.3_Intron|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TCCCCACTTCCGGCTGCCTTCA	0.515														1990	0.397364	0.4599	0.3646	5008	,	,		23142	0.2768		0.3688	False		,,,				2504	0.4898																0								ENSG00000253200																																			RP11-582J16.5	SO:0001627	intron_variant	0				Clone_based_vega_gene	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1042-95->TGCTGCCTTCATCCTGATGGGT	8.37:g.22472255_22472256insTGCTGCCTTCATCCTGATGGGT		Somatic	NA	NA	NA		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000308511.4	37	NULL	CCDS34863.1	8																																																																																			-	-		0.515	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000253200	protein_coding	OTTHUMT00000375865.1	-	NM_021174			22472256	-1	no_errors	ENST00000521025	ensembl	human	known	74_37	rna	INS	0.000:0.000	TGCTGCCTTCATCCTGATGGGT
HUWE1	10075	genome.wustl.edu	37	X	53619440	53619440	+	Missense_Mutation	SNP	C	C	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chrX:53619440C>T	ENST00000342160.3	-	32	4347	c.3890G>A	c.(3889-3891)gGg>gAg	p.G1297E	HUWE1_ENST00000262854.6_Missense_Mutation_p.G1297E|HUWE1_ENST00000218328.8_Missense_Mutation_p.G1297E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1297					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTCGAGACCCCTCCTTCTC	0.547																																																	0								ENSG00000086758						244.0	192.0	210.0					X																	53619440		2203	4300	6503	HUWE1	SO:0001583	missense	0			-	HGNC	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3890G>A	X.37:g.53619440C>T	ENSP00000340648:p.Gly1297Glu	Somatic	0	61	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	29	48.21	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.G1297E	ENST00000342160.3	37	c.3890	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430637	0.62844	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.44083	1.22;1.22;0.93	5.88	5.88	0.94601	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	L	0.33485	1.01	0.80722	D	1	B;B	0.29432	0.192;0.244	B;B	0.32211	0.142;0.097	T	0.21415	-1.0246	10	0.56958	D	0.05	.	17.8502	0.88744	0.0:1.0:0.0:0.0	.	1297;1297	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	E	1297	ENSP00000340648:G1297E;ENSP00000262854:G1297E;ENSP00000218328:G1297E	ENSP00000218328:G1297E	G	-	2	0	HUWE1	53636165	1.000000	0.71417	0.942000	0.38095	0.803000	0.45373	7.121000	0.77160	2.489000	0.83994	0.600000	0.82982	GGG	-	superfamily_UBA-like		0.547	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	protein_coding	OTTHUMT00000056766.1	C	XM_497119	-		53619440	-1	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	SNP	1.000	T
EPB41L3	23136	genome.wustl.edu	37	18	5419919	5419919	+	Intron	SNP	C	C	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr18:5419919C>A	ENST00000341928.2	-	12	1680				EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E451*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E451*|EPB41L3_ENST00000542146.1_5'Flank|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E451*|EPB41L3_ENST00000342933.3_Intron|EPB41L3_ENST00000427684.2_5'Flank|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCATGGTTTTCATTCACTGAT	0.358																																																	0								ENSG00000082397						62.0	58.0	59.0					18																	5419919		2203	4300	6503	EPB41L3	SO:0001627	intron_variant	0			-	HGNC	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1340-43G>T	18.37:g.5419919C>A		Somatic	0	46	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	33	52.17	B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	p.E451*	ENST00000341928.2	37	c.1351	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	C	36	5.633446	0.96682	.	.	ENSG00000082397	ENST00000540638;ENST00000544123;ENST00000545076;ENST00000400111	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	.	.	.	X	342;451;342;451	.	.	E	-	1	0	EPB41L3	5409919	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	5.915000	0.69973	2.808000	0.96608	0.655000	0.94253	GAA	-	pirsf_Band_41_protein		0.358	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	protein_coding	OTTHUMT00000254424.1	C	NM_012307	-		5419919	-1	no_errors	ENST00000544123	ensembl	human	known	74_37	nonsense	SNP	1.000	A
ZNF799	90576	genome.wustl.edu	37	19	12502913	12502913	+	Missense_Mutation	SNP	A	A	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:12502913A>T	ENST00000430385.3	-	4	499	c.299T>A	c.(298-300)gTa>gAa	p.V100E	CTD-3105H18.14_ENST00000435033.1_Intron|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.V100E|ZNF799_ENST00000419318.1_Missense_Mutation_p.V68E	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ATATGGACCTACTCCAGGAAG	0.403																																																	0								ENSG00000196466						131.0	122.0	125.0					19																	12502913		2203	4300	6503	ZNF799	SO:0001583	missense	0			-	HGNC	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.299T>A	19.37:g.12502913A>T	ENSP00000411084:p.Val100Glu	Somatic	0	64	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.V100E	ENST00000430385.3	37	c.299	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.216594	0.00286	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.10099	2.91;3.12	1.31	-1.33	0.09172	.	.	.	.	.	T	0.03434	0.0099	N	0.11000	0.08	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.42361	-0.9456	9	0.02654	T	1	.	1.4828	0.02441	0.4627:0.0:0.2263:0.3111	.	100	Q96GE5	ZN799_HUMAN	E	68;100	ENSP00000415278:V68E;ENSP00000411084:V100E	ENSP00000415278:V68E	V	-	2	0	ZNF799	12363913	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.045000	0.12003	-0.520000	0.06435	0.352000	0.21897	GTA	-	NULL		0.403	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	protein_coding	OTTHUMT00000344099.2	A	NM_001080821	-		12502913	-1	no_errors	ENST00000430385	ensembl	human	known	74_37	missense	SNP	0.000	T
CCDC154	645811	genome.wustl.edu	37	16	1487892	1487892	+	Missense_Mutation	SNP	G	G	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr16:1487892G>T	ENST00000389176.3	-	11	1409	c.1243C>A	c.(1243-1245)Ctg>Atg	p.L415M	CCDC154_ENST00000409671.1_Missense_Mutation_p.L261M	NM_001143980.1	NP_001137452.1	A6NI56	CC154_HUMAN	coiled-coil domain containing 154	415						endosome (GO:0005768)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)	5						TGGCCACTCAGCTCCTTTAAC	0.701																																																	0								ENSG00000197599						12.0	15.0	14.0					16																	1487892		689	1583	2272	CCDC154	SO:0001583	missense	0			-	HGNC			16p13.3	2012-12-13			ENSG00000197599	ENSG00000197599			34454	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 29"""	C16orf29			Standard	NM_001143980		Approved	LOC645811	uc010uve.2	A6NI56	OTTHUMG00000154097	ENST00000389176.3:c.1243C>A	16.37:g.1487892G>T	ENSP00000373828:p.Leu415Met	Somatic	0	14	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00	G9JV18	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L415M	ENST00000389176.3	37	c.1243		16	.	.	.	.	.	.	.	.	.	.	G	8.629	0.893153	0.17613	.	.	ENSG00000197599	ENST00000409671;ENST00000389176	.	.	.	3.91	0.691	0.18045	.	0.000000	0.32952	N	0.005449	T	0.22475	0.0542	L	0.32530	0.975	0.23371	N	0.997815	P	0.52316	0.952	P	0.47673	0.554	T	0.10019	-1.0648	9	0.45353	T	0.12	.	3.772	0.08645	0.2156:0.0:0.5958:0.1886	.	415	A6NI56	CC154_HUMAN	M	261;415	.	ENSP00000373828:L415M	L	-	1	2	CCDC154	1427893	0.000000	0.05858	0.970000	0.41538	0.016000	0.09150	-0.079000	0.11357	0.007000	0.14760	0.561000	0.74099	CTG	-	NULL		0.701	CCDC154-201	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC154	protein_coding		G	NM_001143980	-		1487892	-1	no_errors	ENST00000389176	ensembl	human	known	74_37	missense	SNP	0.990	T
CNTNAP5	129684	genome.wustl.edu	37	2	124783076	124783076	+	5'UTR	SNP	C	C	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr2:124783076C>A	ENST00000431078.1	+	0	213				AC079154.1_ENST00000438816.1_RNA|CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTGGAGCGTCTGGGCACGGG	0.672																																																	0								ENSG00000155052																																			CNTNAP5	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.-152C>A	2.37:g.124783076C>A		Somatic	0	11	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000431078.1	37	NULL	CCDS46401.1	2																																																																																			-	-		0.672	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	protein_coding	OTTHUMT00000330864.3	C		-		124783076	+1	no_errors	ENST00000423939	ensembl	human	putative	74_37	rna	SNP	0.051	A
SEMA6A	57556	genome.wustl.edu	37	5	115838004	115838004	+	Silent	SNP	C	C	T	rs111683037		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr5:115838004C>T	ENST00000343348.6	-	3	907	c.120G>A	c.(118-120)gtG>gtA	p.V40V	SEMA6A_ENST00000510263.1_Silent_p.V40V|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.V40V	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	40	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGCCCACAAACACCGGATACT	0.507																																																	0								ENSG00000092421	C		0,4004		0,0,2002	204.0	198.0	200.0		120	5.5	1.0	5	dbSNP_132	200	1,8367		0,1,4183	no	coding-synonymous	SEMA6A	NM_020796.3		0,1,6185	TT,TC,CC		0.012,0.0,0.0081		40/1031	115838004	1,12371	2002	4184	6186	SEMA6A	SO:0001819	synonymous_variant	0			-	HGNC	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.120G>A	5.37:g.115838004C>T		Somatic	0	11	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	9	62.50	Q9P2H9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.V40	ENST00000343348.6	37	c.120	CCDS47256.1	5																																																																																			-	superfamily_Semap_dom,pfscan_Semap_dom		0.507	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	protein_coding	OTTHUMT00000371270.1	C	NM_020796	-		115838004	-1	no_errors	ENST00000257414	ensembl	human	known	74_37	silent	SNP	1.000	T
SLC10A3	8273	genome.wustl.edu	37	X	153717082	153717082	+	Silent	SNP	C	C	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chrX:153717082C>T	ENST00000393587.4	-	3	461	c.198G>A	c.(196-198)ttG>ttA	p.L66L	SLC10A3_ENST00000393586.1_Silent_p.L121L|UBL4A_ENST00000477777.1_5'Flank|SLC10A3_ENST00000263512.4_Silent_p.L66L|UBL4A_ENST00000369660.4_5'Flank|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000369649.4_Silent_p.L66L	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	66					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCAATGCTCAAGTAGCGGC	0.622																																																	0								ENSG00000126903						146.0	116.0	126.0					X																	153717082		2203	4300	6503	SLC10A3	SO:0001819	synonymous_variant	0			-	HGNC	X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.198G>A	X.37:g.153717082C>T		Somatic	0	80	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	41	52	44.09	Q5HY79|Q9BSL2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.L66	ENST00000393587.4	37	c.198	CCDS14755.1	X																																																																																			-	NULL		0.622	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	protein_coding	OTTHUMT00000037235.3	C	NM_019848	-		153717082	-1	no_errors	ENST00000263512	ensembl	human	known	74_37	silent	SNP	1.000	T
AC008132.13	0	genome.wustl.edu	37	22	18846342	18846342	+	3'UTR	SNP	G	G	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr22:18846342G>A	ENST00000412938.1	+	0	3700																											CATTGCATGTGCTTTCTCAGG	0.562																																																	0								ENSG00000161103																																			AC008132.13	SO:0001624	3_prime_UTR_variant	0			-	Clone_based_vega_gene																												ENST00000412938.1:c.*3697G>A	22.37:g.18846342G>A		Somatic	0	30	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000412938.1	37	NULL		22																																																																																			-	-		0.562	AC008132.13-002	KNOWN	basic	processed_transcript	ENSG00000161103	protein_coding	OTTHUMT00000471615.1	G		-		18846342	+1	no_errors	ENST00000412938	ensembl	human	known	74_37	rna	SNP	0.001	A
ANKRD26	22852	genome.wustl.edu	37	10	27333121	27333121	+	Splice_Site	SNP	T	T	A	rs113123391	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr10:27333121T>A	ENST00000376087.4	-	19	2151		c.e19-2		ANKRD26_ENST00000436985.2_Splice_Site|ANKRD26_ENST00000376070.3_Splice_Site	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26						glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTAGTAGGCCTAAAAAAAAAA	0.224																																																	0								ENSG00000107890						22.0	20.0	21.0					10																	27333121		1770	4032	5802	ANKRD26	SO:0001630	splice_region_variant	0			-	HGNC	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1986-2A>T	10.37:g.27333121T>A		Somatic	0	32	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e19-2	ENST00000376087.4	37	c.2034-2	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	.	13.41	2.229475	0.39399	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4629	0.50221	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD26	27373127	1.000000	0.71417	0.211000	0.23655	0.299000	0.27559	4.135000	0.57997	1.735000	0.51646	0.254000	0.18369	.	-	-		0.224	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	protein_coding	OTTHUMT00000047296.1	T		-	Intron	27333121	-1	no_errors	ENST00000436985	ensembl	human	known	74_37	splice_site	SNP	0.796	A
LILRA3	11026	genome.wustl.edu	37	19	54803750	54803750	+	Missense_Mutation	SNP	G	G	T	rs149807835	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:54803750G>T	ENST00000251390.3	-	3	165	c.74C>A	c.(73-75)cCc>cAc	p.P25H	LILRA3_ENST00000391745.1_Missense_Mutation_p.P42H|LILRA3_ENST00000391744.3_Missense_Mutation_p.P25H	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	25					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTTGGGGAGGGGCCCTGGAAG	0.597													.|||	11	0.00219649	0.0008	0.0086	5008	,	,		12025	0.0		0.004	False		,,,				2504	0.0																0								ENSG00000170866	G	HIS/PRO,HIS/PRO	9,4373		0,9,2182	47.0	47.0	47.0		74,74	0.0	0.0	19	dbSNP_134	47	146,8236		8,130,4053	no	missense,missense	LILRA3	NM_001172654.1,NM_006865.3	77,77	8,139,6235	TT,TG,GG		1.7418,0.2054,1.2144	,	25/376,25/440	54803750	155,12609	2191	4191	6382	LILRA3	SO:0001583	missense	0			-	HGNC	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.74C>A	19.37:g.54803750G>T	ENSP00000251390:p.Pro25His	Somatic	0	39	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.P25H	ENST00000251390.3	37	c.74	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	G	4.906	0.168293	0.09339	0.002054	0.017418	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00784	5.7;5.7;5.7	2.5	0.00277	0.14052	Immunoglobulin-like fold (1);	0.651463	0.13424	N	0.388953	T	0.00440	0.0014	L	0.46819	1.47	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.002	T	0.46386	-0.9195	10	0.42905	T	0.14	.	3.0355	0.06121	0.1596:0.0:0.5785:0.2619	.	25;25	E7EU74;Q8N6C8	.;LIRA3_HUMAN	H	25;25;42	ENSP00000251390:P25H;ENSP00000375624:P25H;ENSP00000375625:P42H	ENSP00000251390:P25H	P	-	2	0	LILRA3	59495562	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.137000	0.10389	-0.019000	0.14055	-0.343000	0.07986	CCC	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.597	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	protein_coding	OTTHUMT00000140236.1	G		rs149807835		54803750	-1	no_errors	ENST00000251390	ensembl	human	known	74_37	missense	SNP	0.001	T
LYN	4067	genome.wustl.edu	37	8	56912075	56912075	+	Missense_Mutation	SNP	G	G	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr8:56912075G>A	ENST00000519728.1	+	12	1599	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	LYN_ENST00000520220.2_Missense_Mutation_p.E414K	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	435	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	CCTCCTATACGAAATTGTCAC	0.403																																																	0								ENSG00000254087						123.0	122.0	122.0					8																	56912075		2203	4300	6503	LYN	SO:0001583	missense	0			-	HGNC	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.1303G>A	8.37:g.56912075G>A	ENSP00000428924:p.Glu435Lys	Somatic	0	30	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	2	88.24	A0AVQ5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E435K	ENST00000519728.1	37	c.1303	CCDS6162.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.306420	0.95629	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.94576	-3.46;-3.46	4.98	4.98	0.66077	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98479	0.9493	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99793	1.1032	10	0.87932	D	0	.	18.6519	0.91433	0.0:0.0:1.0:0.0	.	505;435	Q6NUK7;P07948	.;LYN_HUMAN	K	435;414	ENSP00000428924:E435K;ENSP00000428424:E414K	ENSP00000428924:E435K	E	+	1	0	LYN	57074629	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.813000	0.99286	2.479000	0.83701	0.655000	0.94253	GAA	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.403	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	protein_coding	OTTHUMT00000378155.1	G	NM_002350	-		56912075	+1	no_errors	ENST00000519728	ensembl	human	known	74_37	missense	SNP	1.000	A
CDH12	1010	genome.wustl.edu	37	5	21854831	21854831	+	Missense_Mutation	SNP	C	C	T	rs371189490		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr5:21854831C>T	ENST00000382254.1	-	7	1681	c.595G>A	c.(595-597)Gtt>Att	p.V199I	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.V199I|CDH12_ENST00000522262.1_Intron	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	199	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGCTGTAAACGACTCTGGCA	0.403										HNSCC(59;0.17)																																							0								ENSG00000154162	C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	123.0	118.0	120.0		595	5.4	1.0	5		120	0,8600		0,0,4300	no	missense	CDH12	NM_004061.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	199/795	21854831	2,13004	2203	4300	6503	CDH12	SO:0001583	missense	0			-	HGNC	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.595G>A	5.37:g.21854831C>T	ENSP00000371689:p.Val199Ile	Somatic	0	45	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	30	30.23	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V199I	ENST00000382254.1	37	c.595	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	31	5.084797	0.94100	4.54E-4	0.0	ENSG00000154162	ENST00000504376;ENST00000382254	T;T	0.52983	0.64;0.64	5.4	5.4	0.78164	Cadherin (4);Cadherin-like (1);	0.053683	0.64402	D	0.000001	T	0.51534	0.1680	N	0.16130	0.375	0.80722	D	1	D	0.57899	0.981	P	0.61397	0.888	T	0.54794	-0.8240	10	0.45353	T	0.12	.	19.5343	0.95242	0.0:1.0:0.0:0.0	.	199	P55289	CAD12_HUMAN	I	199	ENSP00000423577:V199I;ENSP00000371689:V199I	ENSP00000371689:V199I	V	-	1	0	CDH12	21890588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.684000	0.91462	0.650000	0.86243	GTT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.403	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	protein_coding	OTTHUMT00000207139.1	C	NM_004061	-		21854831	-1	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	SNP	1.000	T
BEND5	79656	genome.wustl.edu	37	1	49208335	49208338	+	Frame_Shift_Del	DEL	GGAG	GGAG	-	rs374644523		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	GGAG	GGAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr1:49208335_49208338delGGAG	ENST00000371833.3	-	4	937_940	c.851_854delCTCC	c.(850-855)gctcctfs	p.AP286fs	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	286						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						GACAGGCGCAGGAGCGGGGTAATA	0.471																																																	0								ENSG00000162373																																			BEND5	SO:0001589	frameshift_variant	0				HGNC	BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.851_854delCTCC	1.37:g.49208335_49208338delGGAG	ENSP00000360899:p.Ala286fs	Somatic	0	45	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	46	32.35	D3DQ27|Q96A62|Q9HAI3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_BEN_domain	p.A284fs	ENST00000371833.3	37	c.854_851	CCDS552.2	1																																																																																			-	NULL		0.471	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND5	protein_coding	OTTHUMT00000022323.1	GGAG	NM_024603			49208338	-1	no_errors	ENST00000371833	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-
EIF4A1	1973	genome.wustl.edu	37	17	7482018	7482019	+	3'UTR	INS	-	-	A	rs575255819		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr17:7482018_7482019insA	ENST00000293831.8	+	0	1451_1452				SNORA67_ENST00000384423.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_3'UTR|CD68_ENST00000250092.6_5'Flank|SNORD10_ENST00000459579.1_RNA|CD68_ENST00000380498.6_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GCTCTTCTCCCAAAAAAAAAAA	0.446																																					Melanoma(120;278 1668 15796 27423 46368)												0								ENSG00000265500																																			SENP3-EIF4A1	SO:0001624	3_prime_UTR_variant	0				HGNC	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149	ENST00000293831.8:c.*215->A	17.37:g.7482029_7482029dupA		Somatic	0	22	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000293831.8	37	NULL	CCDS11113.1	17																																																																																			-	-		0.446	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP3-EIF4A1	protein_coding	OTTHUMT00000226952.6	-	NM_001416			7482019	+1	no_errors	ENST00000579777	ensembl	human	known	74_37	rna	INS	0.076:0.015	A
DNAH2	146754	genome.wustl.edu	37	17	7623038	7623038	+	Splice_Site	SNP	G	G	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr17:7623038G>A	ENST00000572933.1	+	2	1446		c.e2-1		DNAH2_ENST00000570791.1_Splice_Site|DNAH2_ENST00000082259.3_5'Flank|DNAH2_ENST00000389173.2_5'Flank			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATACCTGTAGGTTTTGCCTG	0.537																																																	0								ENSG00000183914						41.0	37.0	38.0					17																	7623038		2202	4300	6502	DNAH2	SO:0001630	splice_region_variant	0			-	HGNC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.-14-1G>A	17.37:g.7623038G>A		Somatic	0	34	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	42	27.59	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e1-1	ENST00000572933.1	37	c.1-1	CCDS32551.1	17																																																																																			-	-		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	G	NM_020877	-	Intron	7623038	+1	no_errors	ENST00000572933	ensembl	human	known	74_37	splice_site	SNP	0.885	A
DPP6	1804	genome.wustl.edu	37	7	154684144	154684144	+	Missense_Mutation	SNP	A	A	G			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr7:154684144A>G	ENST00000377770.3	+	26	2693	c.2552A>G	c.(2551-2553)gAc>gGc	p.D851G	DPP6_ENST00000332007.3_Missense_Mutation_p.D789G|DPP6_ENST00000404039.1_Missense_Mutation_p.D787G|DPP6_ENST00000427557.1_Missense_Mutation_p.D744G			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	851					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGATCCAGGACAAACTGCTG	0.502																																					NSCLC(125;1384 1783 2490 7422 34254)												0								ENSG00000130226						135.0	145.0	142.0					7																	154684144		2132	4238	6370	DPP6	SO:0001583	missense	0			-	HGNC	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2552A>G	7.37:g.154684144A>G	ENSP00000367001:p.Asp851Gly	Somatic	0	38	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	18	52.63		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.D851G	ENST00000377770.3	37	c.2552		7	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581869	0.46006	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.15603	2.44;2.41;2.43;2.44	4.66	4.66	0.58398	.	0.217416	0.38381	N	0.001712	T	0.34716	0.0907	L	0.53249	1.67	0.58432	D	0.999996	P;D;D;D	0.69078	0.61;0.996;0.993;0.997	B;D;P;P	0.64877	0.165;0.93;0.853;0.892	T	0.09662	-1.0664	10	0.72032	D	0.01	-34.1118	14.1169	0.65159	1.0:0.0:0.0:0.0	.	744;789;851;787	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	G	787;851;789;744	ENSP00000385578:D787G;ENSP00000367001:D851G;ENSP00000328226:D789G;ENSP00000397303:D744G	ENSP00000328226:D789G	D	+	2	0	DPP6	154315077	1.000000	0.71417	0.943000	0.38184	0.742000	0.42306	8.326000	0.90010	1.745000	0.51790	0.533000	0.62120	GAC	-	NULL		0.502	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	protein_coding	OTTHUMT00000322932.1	A	NM_130797	-		154684144	+1	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	SNP	0.999	G
MCM3AP	8888	genome.wustl.edu	37	21	47662900	47662900	+	Intron	DEL	A	A	-	rs56371413|rs75544878		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr21:47662900delA	ENST00000397708.1	-	26	5551				MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_Intron|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Intron|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ACCCTGTCTCAAAAAAAAAAA	0.348																																																	0								ENSG00000215424																																			MCM3AP-AS1	SO:0001627	intron_variant	0				HGNC	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5297-55T>-	21.37:g.47662900delA		Somatic	0	10	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000397708.1	37	NULL	CCDS13734.1	21																																																																																			-	-		0.348	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP-AS1	protein_coding	OTTHUMT00000207254.1	A	NM_003906			47662900	+1	no_errors	ENST00000421927	ensembl	human	known	74_37	rna	DEL	0.000	-
SCAMP1	9522	genome.wustl.edu	37	5	77772628	77772628	+	3'UTR	DEL	A	A	-			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr5:77772628delA	ENST00000339292.4	+	0	2242				SCAMP1_ENST00000538629.1_3'UTR			O15126	SCAM1_HUMAN	secretory carrier membrane protein 1						endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TTCCAGCAATAAAAAAAAAAG	0.308																																																	0								ENSG00000085365																																			SCAMP1	SO:0001624	3_prime_UTR_variant	0				HGNC	AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000339292.4:c.*2239A>-	5.37:g.77772628delA		Somatic	0	19	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	O43587|Q6FG23|Q96BX1|Q96QK5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000339292.4	37	NULL		5																																																																																			-	-		0.308	SCAMP1-001	KNOWN	sequence_error|basic|exp_conf	processed_transcript	SCAMP1	protein_coding	OTTHUMT00000369096.2	A	NM_004866			77772628	+1	no_errors	ENST00000320280	ensembl	human	known	74_37	rna	DEL	0.109	-
DDB1	1642	genome.wustl.edu	37	11	61089859	61089859	+	Missense_Mutation	SNP	C	C	T			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr11:61089859C>T	ENST00000301764.7	-	9	1428	c.1031G>A	c.(1030-1032)gGc>gAc	p.G344D	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	344	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TACATAGGAGCCTTGTTCATT	0.483								Nucleotide excision repair (NER)																																									0								ENSG00000167986						146.0	123.0	131.0					11																	61089859		2203	4299	6502	DDB1	SO:0001583	missense	0			-	HGNC	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.1031G>A	11.37:g.61089859C>T	ENSP00000301764:p.Gly344Asp	Somatic	0	27	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	23	39.47	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cleavage/polyA-sp_fac_asu_C	p.G344D	ENST00000301764.7	37	c.1031	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805170	0.70682	.	.	ENSG00000167986	ENST00000301764;ENST00000539739;ENST00000535174;ENST00000541513	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.46	5.46	0.80206	.	0.048873	0.85682	D	0.000000	T	0.47078	0.1426	M	0.76574	2.34	0.80722	D	1	B;B;B	0.23316	0.083;0.047;0.057	B;B;B	0.24701	0.04;0.034;0.055	T	0.43798	-0.9369	10	0.17369	T	0.5	-21.9975	19.315	0.94208	0.0:1.0:0.0:0.0	.	344;344;344	F5GY55;B7Z2A1;Q16531	.;.;DDB1_HUMAN	D	344;63;127;159	ENSP00000301764:G344D;ENSP00000445563:G63D;ENSP00000446044:G127D;ENSP00000442660:G159D	ENSP00000301764:G344D	G	-	2	0	DDB1	60846435	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.629000	0.83207	2.555000	0.86185	0.655000	0.94253	GGC	-	NULL		0.483	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	protein_coding	OTTHUMT00000398816.1	C	NM_001923	-		61089859	-1	no_errors	ENST00000301764	ensembl	human	known	74_37	missense	SNP	1.000	T
KY	339855	genome.wustl.edu	37	3	134338098	134338098	+	Missense_Mutation	SNP	A	A	G	rs199921236		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr3:134338098A>G	ENST00000423778.2	-	8	663	c.602T>C	c.(601-603)aTt>aCt	p.I201T	KY_ENST00000508956.1_Missense_Mutation_p.I180T|KY_ENST00000508041.1_5'UTR|KY_ENST00000503669.1_Missense_Mutation_p.I201T	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	201					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCAGCTGCAATGTCATACTC	0.572																																																	0								ENSG00000174611	A	THR/ILE	0,4176		0,0,2088	127.0	128.0	128.0		602	3.9	0.0	3		128	4,8432		0,4,4214	no	missense	KY	NM_178554.4	89	0,4,6302	GG,GA,AA		0.0474,0.0,0.0317	benign	201/662	134338098	4,12608	2088	4218	6306	KY	SO:0001583	missense	0			-	HGNC	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.602T>C	3.37:g.134338098A>G	ENSP00000397598:p.Ile201Thr	Somatic	0	52	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	31	27.91	B7Z1S4|Q6ZT15	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Transglutaminase-like,smart_Transglutaminase-like	p.I201T	ENST00000423778.2	37	c.602	CCDS46920.1	3	.	.	.	.	.	.	.	.	.	.	A	10.62	1.401948	0.25291	0.0	4.74E-4	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	T;T;T	0.21031	2.03;2.03;2.03	3.87	3.87	0.44632	.	0.800150	0.10873	N	0.624663	T	0.11196	0.0273	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.18166	0.018;0.026;0.004	B;B;B	0.20955	0.007;0.032;0.008	T	0.24190	-1.0167	10	0.33141	T	0.24	-18.9289	12.8303	0.57742	1.0:0.0:0.0:0.0	.	180;201;201	Q8NBH2-3;B4DGA7;Q8NBH2-4	.;.;.	T	180;201;201;201	ENSP00000421297:I180T;ENSP00000397598:I201T;ENSP00000426777:I201T	ENSP00000309520:I201T	I	-	2	0	KY	135820788	0.339000	0.24784	0.015000	0.15790	0.059000	0.15707	6.117000	0.71577	1.629000	0.50426	0.379000	0.24179	ATT	-	pfam_Transglutaminase-like		0.572	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KY	protein_coding	OTTHUMT00000357320.1	A	NM_178554	rs199921236		134338098	-1	no_errors	ENST00000423778	ensembl	human	known	74_37	missense	SNP	0.066	G
MYO7B	4648	genome.wustl.edu	37	2	128389232	128389232	+	Missense_Mutation	SNP	T	T	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr2:128389232T>A	ENST00000409816.2	+	36	5107	c.5075T>A	c.(5074-5076)cTc>cAc	p.L1692H	MYO7B_ENST00000389524.4_Missense_Mutation_p.L1693H|MYO7B_ENST00000409090.1_Missense_Mutation_p.L545H|MYO7B_ENST00000428314.1_Missense_Mutation_p.L1692H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1692	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCCTGGAGCTCACCGACCAG	0.642																																																	0								ENSG00000169994						48.0	56.0	53.0					2																	128389232		2202	4289	6491	MYO7B	SO:0001583	missense	0			-	HGNC		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5075T>A	2.37:g.128389232T>A	ENSP00000386461:p.Leu1692His	Somatic	0	37	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	23	43.90	Q14786|Q8TEE1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.L1693H	ENST00000409816.2	37	c.5078	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	t	28.3	4.904956	0.92035	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.23	5.23	0.72850	MyTH4 domain (3);	0.079417	0.52532	D	0.000077	D	0.96821	0.8962	M	0.85099	2.735	0.53005	D	0.999968	D	0.89917	1.0	D	0.85130	0.997	D	0.97404	0.9998	10	0.66056	D	0.02	.	15.1267	0.72489	0.0:0.0:0.0:1.0	.	1692	Q6PIF6	MYO7B_HUMAN	H	1693;1692;788;1692;545	ENSP00000374175:L1693H;ENSP00000415090:L1692H;ENSP00000386461:L1692H;ENSP00000386850:L545H	ENSP00000272666:L788H	L	+	2	0	MYO7B	128105702	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.691000	0.84191	1.972000	0.57404	0.460000	0.39030	CTC	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom		0.642	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	protein_coding	OTTHUMT00000331124.3	T	XM_291001	-		128389232	+1	no_errors	ENST00000389524	ensembl	human	known	74_37	missense	SNP	1.000	A
UBXN6	80700	genome.wustl.edu	37	19	4445565	4445565	+	Missense_Mutation	SNP	T	T	C			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:4445565T>C	ENST00000301281.6	-	11	1380	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	MIR4746_ENST00000579802.1_RNA|CTB-50L17.7_ENST00000588798.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.K366R	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	419						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCCCGCGGCCTTGATGTCCTC	0.627																																																	0								ENSG00000167671						90.0	93.0	92.0					19																	4445565		2203	4300	6503	UBXN6	SO:0001583	missense	0			-	HGNC	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.1256A>G	19.37:g.4445565T>C	ENSP00000301281:p.Lys419Arg	Somatic	0	42	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX	p.K419R	ENST00000301281.6	37	c.1256	CCDS12129.1	19	.	.	.	.	.	.	.	.	.	.	T	3.980	-0.006602	0.07773	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.32023	1.9;1.47	5.82	-5.15	0.02866	.	0.657772	0.16181	N	0.225833	T	0.11750	0.0286	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.30707	-0.9969	10	0.11485	T	0.65	-18.0273	15.9117	0.79477	0.0:0.1237:0.0:0.8763	.	366;419	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	R	419;366	ENSP00000301281:K419R;ENSP00000378246:K366R	ENSP00000301281:K419R	K	-	2	0	UBXN6	4396565	0.006000	0.16342	0.019000	0.16419	0.035000	0.12851	0.197000	0.17197	-0.642000	0.05480	0.459000	0.35465	AAG	-	NULL		0.627	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN6	protein_coding	OTTHUMT00000458447.3	T	NM_025241	-		4445565	-1	no_errors	ENST00000301281	ensembl	human	known	74_37	missense	SNP	0.166	C
POPDC3	64208	genome.wustl.edu	37	6	105629045	105629082	+	5'Flank	DEL	TGTGTGTGTGTGTGTGTATATATATGTATATATATATA	TGTGTGTGTGTGTGTGTATATATATGTATATATATATA	-	rs376089860|rs199660655|rs377606479|rs370625357|rs559491746|rs374986635|rs140503760|rs200744590|rs375016144|rs367674232|rs377060256|rs371884011|rs376600509	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	TGTGTGTGTGTGTGTGTATATATATGTATATATATATA	TGTGTGTGTGTGTGTGTATATATATGTATATATATATA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr6:105629045_105629082delTGTGTGTGTGTGTGTGTATATATATGTATATATATATA	ENST00000254765.3	-	0	0				POPDC3_ENST00000474760.1_5'Flank|AL359709.1_ENST00000408617.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3						regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				tgtgtgtgtgtgtgtgtgtgtgtgtgtatatatatgtATATATATATATATACACACA	0.387																																																	0								ENSG00000221544																																			AL359709.1	SO:0001631	upstream_gene_variant	0				Clone_based_ensembl_gene	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293		6.37:g.105629045_105629082delTGTGTGTGTGTGTGTGTATATATATGTATATATATATA	Exception_encountered	Somatic	NA	NA	NA		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B2RA98|Q5T3Y8|Q8TBW6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000254765.3	37	NULL	CCDS5052.1	6																																																																																			-	-		0.387	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221544	protein_coding	OTTHUMT00000041651.1	TGTGTGTGTGTGTGTGTATATATATGTATATATATATA	NM_022361			105629082	-1	no_errors	ENST00000408617	ensembl	human	novel	74_37	rna	DEL	0.001:0.000:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.001:0.002:0.002:0.004:0.005:0.007:0.007:0.007:0.007:0.007:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000	-
ANP32BP1	646791	genome.wustl.edu	37	15	75614966	75614987	+	RNA	DEL	GGCGGCGCGGTCCTGGGTGGCG	GGCGGCGCGGTCCTGGGTGGCG	-	rs115991344|rs563222844	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	GGCGGCGCGGTCCTGGGTGGCG	GGCGGCGCGGTCCTGGGTGGCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr15:75614966_75614987delGGCGGCGCGGTCCTGGGTGGCG	ENST00000564205.1	-	0	47_68									acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1																		GGCAGAGGCCGGCGGCGCGGTCCTGGGTGGCGGGCGGCGTGG	0.577														602	0.120208	0.1452	0.1225	5008	,	,		9522	0.0298		0.2406	False		,,,				2504	0.0542																0								ENSG00000259790																																			ANP32BP1			0				HGNC			15q24.2	2014-02-12			ENSG00000259790	ENSG00000259790			24267	pseudogene	pseudogene							Standard	NG_022900		Approved				OTTHUMG00000172674		15.37:g.75614966_75614987delGGCGGCGCGGTCCTGGGTGGCG		Somatic	NA	NA	NA		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000564205.1	37	NULL		15																																																																																			-	-		0.577	ANP32BP1-002	KNOWN	basic	processed_transcript	ANP32BP1	pseudogene	OTTHUMT00000419801.1	GGCGGCGCGGTCCTGGGTGGCG				75614987	-1	no_errors	ENST00000564205	ensembl	human	known	74_37	rna	DEL	0.017:0.012:0.007:0.001:0.002:0.000:0.000:0.001:0.001:0.002:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.016:0.001:0.000	-
EHD1	10938	genome.wustl.edu	37	11	64622875	64622875	+	Missense_Mutation	SNP	G	G	C			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr11:64622875G>C	ENST00000320631.3	-	4	1253	c.999C>G	c.(997-999)aaC>aaG	p.N333K	EHD1_ENST00000488711.1_5'Flank|EHD1_ENST00000359393.2_Missense_Mutation_p.N333K	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	333					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTCCGAGGTTGTTCACCAGCT	0.552											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000110047						156.0	142.0	147.0					11																	64622875		2201	4297	6498	EHD1	SO:0001583	missense	0			-	HGNC	AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.999C>G	11.37:g.64622875G>C	ENSP00000320516:p.Asn333Lys	Somatic	0	24	0.00	1078	0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	18	40.00	O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.N333K	ENST00000320631.3	37	c.999	CCDS8084.1	11	.	.	.	.	.	.	.	.	.	.	G	6.474	0.455546	0.12283	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803	T;T;T;T	0.39997	2.37;2.37;1.05;1.63	4.63	4.63	0.57726	.	0.207171	0.50627	D	0.000109	T	0.26629	0.0651	N	0.17764	0.52	0.51233	D	0.999919	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.07271	-1.0781	10	0.08837	T	0.75	.	15.0511	0.71872	0.0:0.0:1.0:0.0	.	333;333	B2R5U3;Q9H4M9	.;EHD1_HUMAN	K	333;333;309;347;197;347	ENSP00000320516:N333K;ENSP00000352354:N333K;ENSP00000391429:N197K;ENSP00000404944:N347K	ENSP00000320516:N333K	N	-	3	2	EHD1	64379451	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.658000	0.61497	2.420000	0.82092	0.561000	0.74099	AAC	-	NULL		0.552	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	protein_coding	OTTHUMT00000143229.2	G	NM_006795	-		64622875	-1	no_errors	ENST00000320631	ensembl	human	known	74_37	missense	SNP	1.000	C
FAM50B	26240	genome.wustl.edu	37	6	3850370	3850370	+	Missense_Mutation	SNP	C	C	G			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr6:3850370C>G	ENST00000380274.1	+	1	751	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	FAM50B_ENST00000380272.3_Missense_Mutation_p.Q109E			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	109						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				ggagcaggagcagcggcGCGA	0.711																																																	0								ENSG00000145945						12.0	18.0	16.0					6																	3850370		2198	4287	6485	FAM50B	SO:0001583	missense	0			-	HGNC	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.325C>G	6.37:g.3850370C>G	ENSP00000369627:p.Gln109Glu	Somatic	0	24	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	45.83	Q5T2L6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_XAP5	p.Q109E	ENST00000380274.1	37	c.325	CCDS4487.1	6	.	.	.	.	.	.	.	.	.	.	C	0.097	-1.158413	0.01686	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.17	4.17	0.49024	.	0.723288	0.12062	N	0.503063	T	0.04815	0.0130	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.20371	-1.0277	9	0.06891	T	0.86	-11.2553	12.2094	0.54371	0.0:1.0:0.0:0.0	.	109	Q9Y247	FA50B_HUMAN	E	109	.	ENSP00000369625:Q109E	Q	+	1	0	FAM50B	3795369	0.764000	0.28473	0.103000	0.21229	0.229000	0.25112	1.323000	0.33701	2.332000	0.79248	0.485000	0.47835	CAG	-	pfam_XAP5		0.711	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM50B	protein_coding	OTTHUMT00000039693.1	C	NM_012135	-		3850370	+1	no_errors	ENST00000380272	ensembl	human	novel	74_37	missense	SNP	0.167	G
CLEC4M	10332	genome.wustl.edu	37	19	7830875	7830875	+	Missense_Mutation	SNP	A	A	G			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr19:7830875A>G	ENST00000327325.5	+	4	684	c.566A>G	c.(565-567)aAg>aGg	p.K189R	CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000359059.5_Missense_Mutation_p.K145R|CLEC4M_ENST00000248228.4_Missense_Mutation_p.K167R|CLEC4M_ENST00000334806.5_Missense_Mutation_p.K138R|CLEC4M_ENST00000596363.1_Missense_Mutation_p.K161R|CLEC4M_ENST00000394122.2_Missense_Mutation_p.K177R|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000357361.2_Missense_Mutation_p.K189R|CLEC4M_ENST00000596707.1_Missense_Mutation_p.K168R	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	189	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ACCCGGCTGAAGGCTGCAGTG	0.577																																																	0								ENSG00000104938						28.0	24.0	25.0					19																	7830875		2039	4167	6206	CLEC4M	SO:0001583	missense	0			-	HGNC	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.566A>G	19.37:g.7830875A>G	ENSP00000316228:p.Lys189Arg	Somatic	0	97	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	62	32.61	A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.K189R	ENST00000327325.5	37	c.566	CCDS12187.1	19	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197754	0.38806	.	.	ENSG00000104938	ENST00000327325;ENST00000394122;ENST00000248228;ENST00000334806;ENST00000359059;ENST00000357361;ENST00000358690	T;T;T;T;T;T	0.33216	1.42;1.75;1.75;1.42;4.15;1.42	1.1	1.1	0.20463	.	.	.	.	.	T	0.47284	0.1437	M	0.75777	2.31	0.18873	N	0.999988	B;P;D;P;D;P;P;B	0.71674	0.177;0.86;0.998;0.615;0.982;0.811;0.551;0.34	B;P;D;B;D;P;B;B	0.85130	0.15;0.815;0.997;0.164;0.952;0.828;0.228;0.316	T	0.24440	-1.0160	9	0.32370	T	0.25	.	4.4132	0.11443	1.0:0.0:0.0:0.0	.	138;168;161;189;177;166;161;133	B4E2Z5;Q9H2X3-5;B4DNV9;Q9H2X3;E7ENS9;Q9H2X3-8;Q9H2X3-9;Q9H2X3-10	.;.;.;CLC4M_HUMAN;.;.;.;.	R	189;177;167;138;145;189;133	ENSP00000316228:K189R;ENSP00000377680:K177R;ENSP00000248228:K167R;ENSP00000335228:K138R;ENSP00000351954:K145R;ENSP00000349924:K189R	ENSP00000248228:K167R	K	+	2	0	CLEC4M	7736875	0.775000	0.28604	0.609000	0.28983	0.177000	0.22998	0.798000	0.27014	0.749000	0.32854	0.352000	0.21897	AAG	-	NULL		0.577	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4M	protein_coding	OTTHUMT00000461161.1	A	NM_014257	-		7830875	+1	no_errors	ENST00000327325	ensembl	human	known	74_37	missense	SNP	0.689	G
CPNE8	144402	genome.wustl.edu	37	12	39047419	39047419	+	3'UTR	SNP	T	T	A	rs2730947|rs59710225|rs66915084|rs375756966	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr12:39047419T>A	ENST00000331366.5	-	0	2056				CPNE8_ENST00000538596.2_3'UTR|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII							extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGTTTCTGTTAAAAAAAAAA	0.313																																																	0								ENSG00000139117																																			CPNE8	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.*265A>T	12.37:g.39047419T>A		Somatic	0	20	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	Q2TB41|Q86VY2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000331366.5	37	NULL	CCDS8733.1	12																																																																																			-	-		0.313	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	protein_coding	OTTHUMT00000403856.1	T	NM_153634	-		39047419	-1	no_errors	ENST00000546603	ensembl	human	known	74_37	rna	SNP	0.031	A
RB1	5925	genome.wustl.edu	37	13	48923068	48923109	+	Splice_Site	DEL	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	-	rs140706037|rs149703672|rs147793910		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr13:48923068_48923109delTTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	ENST00000267163.4	+	6	677_695	c.539_557delTTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA	c.(538-558)tttctgctttctatttgttta>ta	p.FLLSICL180del		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	180					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.S182fs*3(1)|p.N186fs*6(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCTGTTTTTTTTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAATTCTGCATTG	0.248		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	23	Whole gene deletion(15)|Unknown(6)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	bone(11)|breast(6)|lung(2)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CI931106|CM951103|CS030548|CS930863	RB1	I|M|S		ENSG00000139687																																			RB1	SO:0001630	splice_region_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.540-1TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA>-	13.37:g.48923068_48923109delTTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA		Somatic	NA	NA	NA		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	DEL	NA	NA	NA	NA	NA	NA	-	e6-1	ENST00000267163.4	37	c.540-24_540-1	CCDS31973.1	13																																																																																			-	-		0.248	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	TTCTGCTTTCTATTTGTTTAATAGGATATCTACTGAAATAAA			In_Frame_Del	48923109	+1	no_errors	ENST00000267163	ensembl	human	known	74_37	splice_site_del	DEL	0.748:0.656:0.094:0.076:0.000:0.005:0.215:0.266:0.281:0.276:0.319:0.335:0.547:0.689:0.953:0.968:0.985:0.987:0.993:0.993:0.992:0.996:1.000:1.000:0.997:0.988:1.000:1.000:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
F8	2157	genome.wustl.edu	37	X	154158400	154158400	+	Missense_Mutation	SNP	G	G	A			TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chrX:154158400G>A	ENST00000360256.4	-	14	3865	c.3665C>T	c.(3664-3666)aCa>aTa	p.T1222I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1222	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTGGATTAATGTTTCCTTCTT	0.318																																																	0								ENSG00000185010						37.0	32.0	34.0					X																	154158400		2202	4297	6499	F8	SO:0001583	missense	0			-	HGNC	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3665C>T	X.37:g.154158400G>A	ENSP00000353393:p.Thr1222Ile	Somatic	0	55	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	63	11.27	Q14286|Q5HY69	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T1222I	ENST00000360256.4	37	c.3665	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	1.192	-0.634945	0.03584	.	.	ENSG00000185010	ENST00000360256	D	0.99070	-5.39	5.87	-3.22	0.05125	.	1.632970	0.02763	N	0.118787	D	0.96809	0.8958	L	0.47716	1.5	0.09310	N	1	B	0.21071	0.051	B	0.14023	0.01	D	0.91719	0.5387	10	0.45353	T	0.12	0.1328	4.1456	0.10214	0.0751:0.1876:0.3925:0.3449	.	1222	P00451	FA8_HUMAN	I	1222	ENSP00000353393:T1222I	ENSP00000353393:T1222I	T	-	2	0	F8	153811594	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.824000	0.04438	-0.783000	0.04534	-0.227000	0.12334	ACA	-	NULL		0.318	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	protein_coding	OTTHUMT00000058869.4	G		-		154158400	-1	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	SNP	0.000	A
EFCAB5	374786	genome.wustl.edu	37	17	28405430	28405430	+	Missense_Mutation	SNP	C	C	T	rs376451950		TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr17:28405430C>T	ENST00000394835.3	+	15	3127	c.2935C>T	c.(2935-2937)Cgg>Tgg	p.R979W	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R855W|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	979							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTGCCAGGCGGAAATGGCT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18814	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000176927	C	TRP/ARG	0,3856		0,0,1928	83.0	83.0	83.0		2935	3.9	0.9	17		83	1,8259		0,1,4129	no	missense	EFCAB5	NM_198529.3	101	0,1,6057	TT,TC,CC		0.0121,0.0,0.0083	benign	979/1504	28405430	1,12115	1928	4130	6058	EFCAB5	SO:0001583	missense	0			-	HGNC	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2935C>T	17.37:g.28405430C>T	ENSP00000378312:p.Arg979Trp	Somatic	0	33	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	25	39.02	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfscan_EF_hand_dom	p.R979W	ENST00000394835.3	37	c.2935	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595220	0.46318	0.0	1.21E-4	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.16897	2.31;2.33;2.33	4.89	3.92	0.45320	GAF (1);	0.338736	0.19963	N	0.102163	T	0.10035	0.0246	N	0.25647	0.755	0.34743	D	0.730944	B;B	0.32939	0.2;0.391	B;B	0.24541	0.046;0.054	T	0.18241	-1.0343	10	0.59425	D	0.04	-3.9203	6.3165	0.21194	0.195:0.7095:0.0:0.0955	.	855;979	E7EVS9;A4FU69	.;EFCB5_HUMAN	W	979;855;661	ENSP00000378312:R979W;ENSP00000322003:R855W;ENSP00000417009:R661W	ENSP00000322003:R855W	R	+	1	2	EFCAB5	25429556	0.661000	0.27430	0.942000	0.38095	0.356000	0.29392	0.674000	0.25218	1.067000	0.40740	0.655000	0.94253	CGG	-	NULL		0.493	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	protein_coding	OTTHUMT00000256120.4	C	NM_198529	-		28405430	+1	no_errors	ENST00000394835	ensembl	human	known	74_37	missense	SNP	0.567	T
ARGLU1	55082	genome.wustl.edu	37	13	107196174	107196174	+	3'UTR	DEL	A	A	-	rs561134219|rs398024313|rs11349875	byFrequency	TCGA-PC-A5DO-01A-11D-A26G-09	TCGA-PC-A5DO-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e26e7a28-a459-4727-bd2e-4e7c9f211e38	4a7eeeb5-9b16-4e5e-8ef9-0ffb034ecfb7	g.chr13:107196174delA	ENST00000400198.3	-	0	1236				ARGLU1_ENST00000472226.1_5'UTR	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAGTGGAAGGAAAAAAAAAAA	0.313													|||unknown(HR)	2672	0.533546	0.4894	0.5504	5008	,	,		14611	0.375		0.665	False		,,,				2504	0.6094																0								ENSG00000134884																																			ARGLU1	SO:0001624	3_prime_UTR_variant	0				HGNC	BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.*170T>-	13.37:g.107196174delA		Somatic	0	9	0.00		0.7423615088409785	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	B4E0Y3|Q5T257|Q6IQ34	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000400198.3	37	NULL	CCDS41906.1	13																																																																																			-	-		0.313	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	protein_coding	OTTHUMT00000045727.1	A	NM_018011			107196174	-1	no_errors	ENST00000472226	ensembl	human	known	74_37	rna	DEL	0.001	-
