#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_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_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_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	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_dbSNP	i_default_gene_name	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_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
LINC01317	104355287	genome.wustl.edu	37	2	33952223	33952223	+	lincRNA	SNP	G	G	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr2:33952223G>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CACAAGGTAGGGGTTTCTGTC	0.592													ENSG00000239649																																					0																																												0			-																													2.37:g.33952223G>T				R	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			-	MYADML	-	-		0.592	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	0	0	0	43	43	116	0.00	0.00	G			33952223	-1	8	13	33	81	tier1	no_errors	ENST00000474610	ensembl	human	known	74_37	rna	19.51	13.83	SNP	0.001	T	8	33
CEP350	9857	genome.wustl.edu	37	1	179966060	179966060	+	Silent	SNP	C	C	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr1:179966060C>T	ENST00000367607.3	+	6	1186	c.768C>T	c.(766-768)gaC>gaT	p.D256D		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	256					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GACTAACTGACTCTTCTCCAT	0.373													ENSG00000135837																																					0													127.0	127.0	127.0					1																	179966060		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.768C>T	1.37:g.179966060C>T			O75068|Q8TDK3|Q8WY20	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.D256	ENST00000367607.3	37	c.768	CCDS1336.1	1																																																																																			-	CEP350	-	NULL		0.373	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	0	0	0	39	39	107	0.00	0.00	C	NM_014810		179966060	+1	10	23	63	148	tier1	no_errors	ENST00000367607	ensembl	human	known	74_37	silent	13.70	13.45	SNP	0.938	T	10	63
NME2	4831	genome.wustl.edu	37	17	49245607	49245607	+	Missense_Mutation	SNP	C	C	G			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:49245607C>G	ENST00000393193.2	+	6	553	c.476C>G	c.(475-477)tCt>tGt	p.S159C	NME1-NME2_ENST00000503064.1_Missense_Mutation_p.S44C|NME1-NME2_ENST00000513177.1_Missense_Mutation_p.S44C|NME1-NME2_ENST00000393198.3_Missense_Mutation_p.S159C|NME1-NME2_ENST00000512737.1_Missense_Mutation_p.S44C|NME1-NME2_ENST00000608447.1_Missense_Mutation_p.S184C|NME2_ENST00000376392.6_Missense_Mutation_p.S159C|NME2_ENST00000555572.1_Missense_Mutation_p.S184C|NME1-NME2_ENST00000514264.2_Missense_Mutation_p.S44C|NME1-NME2_ENST00000393183.3_5'UTR|NME1-NME2_ENST00000393190.1_Missense_Mutation_p.S44C|NME1-NME2_ENST00000393185.1_5'UTR			P22392	NDKB_HUMAN	NME/NM23 nucleoside diphosphate kinase 2	44					cell adhesion (GO:0007155)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of apoptotic process (GO:0043066)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside triphosphate biosynthetic process (GO:0009142)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|UTP biosynthetic process (GO:0006228)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)|protein histidine kinase activity (GO:0004673)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	TGCCAGGCCTCTGAAGAACAC	0.517													ENSG00000243678																									Esophageal Squamous(49;809 1203 4404 15246)												0													109.0	91.0	97.0					17																	49245607		2203	4300	6503	SO:0001583	missense	0			-	X58965	CCDS11580.1, CCDS74107.1	17q21.33	2013-04-29	2012-05-18		ENSG00000011052	ENSG00000011052			7850	protein-coding gene	gene with protein product		156491	"""non-metastatic cells 2, protein (NM23B) expressed in"""			1988104, 19852809	Standard	NM_001018137		Approved	NM23-H2, NDPKB		P22392	OTTHUMG00000154062	ENST00000393193.2:c.476C>G	17.37:g.49245607C>G	ENSP00000376889:p.Ser159Cys		A8MWA3|Q1WM23|Q6LCT6	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.S184C	ENST00000393193.2	37	c.551	CCDS32682.1	17	.	.	.	.	.	.	.	.	.	.	c	21.4	4.147123	0.77888	.	.	ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000011052;ENSG00000243678;ENSG00000243678	ENST00000376392;ENST00000555572;ENST00000514264;ENST00000513177;ENST00000512737;ENST00000503064;ENST00000393190;ENST00000393193;ENST00000393198	T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	4.81	4.81	0.61882	.	0.000000	0.64402	U	0.000002	D	0.94473	0.8221	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.70487	0.874;0.969	D	0.97253	0.9899	10	0.87932	D	0	-12.4231	17.8748	0.88822	0.0:1.0:0.0:0.0	.	44;184	P22392;Q32Q12	NDKB_HUMAN;.	C	159;184;44;44;44;44;44;159;184	ENSP00000365572:S159C;ENSP00000451932:S184C;ENSP00000426976:S44C;ENSP00000425581:S44C;ENSP00000421064:S44C;ENSP00000426901:S44C;ENSP00000376886:S44C;ENSP00000376889:S159C	ENSP00000365572:S44C	S	+	2	0	NME2;NME1-NME2	46600606	0.991000	0.36638	0.991000	0.47740	0.969000	0.65631	3.380000	0.52448	2.374000	0.81015	0.651000	0.88453	TCT	-	NME1-NME2	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase		0.517	NME2-001	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	NME1-NME2	HGNC	protein_coding	OTTHUMT00000268664.2	0	0	0	66	66	113	0.00	0.00	C	NM_002512		49245607	+1	15	23	93	113	tier1	no_errors	ENST00000608447	ensembl	human	known	74_37	missense	13.89	16.79	SNP	0.999	G	15	93
RASGEF1C	255426	genome.wustl.edu	37	5	179528441	179528441	+	3'UTR	SNP	G	G	A			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr5:179528441G>A	ENST00000393371.2	-	0	1757				RASGEF1C_ENST00000361132.4_3'UTR|RASGEF1C_ENST00000522500.1_3'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCACTGAGGCAGGGCTGTG	0.612													ENSG00000146090																																					0													23.0	25.0	25.0					5																	179528441		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			-	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.*60C>T	5.37:g.179528441G>A			D3DWQ7|Q7Z4T0|Q8NA49	R	SNP	-	NULL	ENST00000393371.2	37	NULL	CCDS4452.1	5																																																																																			-	RASGEF1C	-	-		0.612	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	HGNC	protein_coding	OTTHUMT00000253506.2	0	0	0	57	57	20	0.00	0.00	G	NM_175062		179528441	-1	8	6	23	19	tier1	no_errors	ENST00000519456	ensembl	human	known	74_37	rna	25.00	24.00	SNP	0.918	A	8	23
CCNT2	905	genome.wustl.edu	37	2	135694493	135694493	+	Missense_Mutation	SNP	A	A	G			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr2:135694493A>G	ENST00000264157.5	+	3	353	c.323A>G	c.(322-324)cAt>cGt	p.H108R	CCNT2_ENST00000295238.6_Missense_Mutation_p.H108R|CCNT2_ENST00000537343.1_5'UTR	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	108					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AAAGTAGCACATGCTTGTCTT	0.333													ENSG00000082258																																					0													137.0	137.0	137.0					2																	135694493		2203	4300	6503	SO:0001583	missense	0			-	AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.323A>G	2.37:g.135694493A>G	ENSP00000264157:p.His108Arg		A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.H108R	ENST00000264157.5	37	c.323	CCDS2174.1	2	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935184	0.73442	.	.	ENSG00000082258	ENST00000295238;ENST00000264157	T;T	0.10668	2.85;2.85	5.39	5.39	0.77823	Cyclin, N-terminal (1);Cyclin-like (3);	0.044474	0.85682	D	0.000000	T	0.12220	0.0297	L	0.45422	1.42	0.80722	D	1	B;P	0.37914	0.422;0.611	B;B	0.36845	0.158;0.234	T	0.04041	-1.0982	10	0.42905	T	0.14	.	15.7054	0.77577	1.0:0.0:0.0:0.0	.	108;108	O60583;O60583-2	CCNT2_HUMAN;.	R	108	ENSP00000295238:H108R;ENSP00000264157:H108R	ENSP00000264157:H108R	H	+	2	0	CCNT2	135410963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.163000	0.67991	0.533000	0.62120	CAT	-	CCNT2	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like		0.333	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	0	0	0	21	21	94	0.00	0.00	A	NM_058241		135694493	+1	18	52	32	92	tier1	no_errors	ENST00000264157	ensembl	human	known	74_37	missense	36.00	35.86	SNP	1.000	G	18	32
OBSCN	84033	genome.wustl.edu	37	1	228401199	228401199	+	Missense_Mutation	SNP	C	C	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr1:228401199C>T	ENST00000422127.1	+	3	1090	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L	OBSCN_ENST00000570156.2_Missense_Mutation_p.S349L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S349L|C1orf145_ENST00000295012.5_Missense_Mutation_p.D55N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	349	Ig-like 4.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAAGGAGTCGGCCACGTTC	0.652													ENSG00000154358																																					0													25.0	29.0	28.0					1																	228401199		2112	4206	6318	SO:0001583	missense	0			-	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1046C>T	1.37:g.228401199C>T	ENSP00000409493:p.Ser349Leu		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.S349L	ENST00000422127.1	37	c.1046	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.334458|4.334458	0.81801|0.81801	.|.	.|.	ENSG00000162913|ENSG00000154358	ENST00000295012|ENST00000284548;ENST00000422127	.|T;T	.|0.70164	.|-0.46;-0.46	5.47|5.47	4.55|4.55	0.56014|0.56014	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.490293|.	0.15258|.	N|.	0.271964|.	T|T	0.56171|0.56171	0.1967|0.1967	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	.|P;P	.|0.37573	.|0.6;0.545	.|B;B	.|0.30495	.|0.116;0.071	T|T	0.55095|0.55095	-0.8194|-0.8194	7|8	0.87932|.	D|.	0|.	-15.0299|-15.0299	10.6159|10.6159	0.45449|0.45449	0.0:0.7937:0.1343:0.072|0.0:0.7937:0.1343:0.072	.|.	.|349;349	.|Q5VST9;Q5VST9-3	.|OBSCN_HUMAN;.	N|L	55|349	.|ENSP00000284548:S349L;ENSP00000409493:S349L	ENSP00000295012:D55N|.	D|S	-|+	1|2	0|0	C1orf145|OBSCN	226467822|226467822	0.976000|0.976000	0.34144|0.34144	0.932000|0.932000	0.37286|0.37286	0.976000|0.976000	0.68499|0.68499	3.237000|3.237000	0.51344|0.51344	1.282000|1.282000	0.44496|0.44496	0.655000|0.655000	0.94253|0.94253	GAC|TCG	-	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		0	0	0	70	70	39	0.00	0.00	C	NM_052843		228401199	+1	20	11	34	25	tier1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	37.04	30.56	SNP	0.992	T	20	34
ANKRA2	57763	genome.wustl.edu	37	5	72858439	72858439	+	Missense_Mutation	SNP	C	C	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr5:72858439C>T	ENST00000296785.3	-	2	926	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	90						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		ACAGATGCCACCTCCAGGTCA	0.328													ENSG00000164331																																					0													89.0	91.0	90.0					5																	72858439		2203	4300	6503	SO:0001583	missense	0			-	AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"""Ankyrin repeat domain containing"""	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.268G>A	5.37:g.72858439C>T	ENSP00000296785:p.Val90Met			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V90M	ENST00000296785.3	37	c.268	CCDS4020.1	5	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598861	0.87055	.	.	ENSG00000164331	ENST00000296785;ENST00000504641	T;T	0.57436	0.92;0.4	5.21	5.21	0.72293	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.91635	0.999;0.969	T	0.69363	-0.5165	10	0.62326	D	0.03	-15.5892	18.7735	0.91901	0.0:1.0:0.0:0.0	.	90;90	D6RBK8;Q9H9E1	.;ANRA2_HUMAN	M	90	ENSP00000296785:V90M;ENSP00000422643:V90M	ENSP00000296785:V90M	V	-	1	0	ANKRA2	72894195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.451000	0.80668	2.426000	0.82243	0.655000	0.94253	GTG	-	ANKRA2	-	NULL		0.328	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRA2	HGNC	protein_coding	OTTHUMT00000219814.2	0	0	0	68	68	97	0.00	0.00	C	NM_023039		72858439	-1	22	22	62	58	tier1	no_errors	ENST00000296785	ensembl	human	known	74_37	missense	26.19	27.50	SNP	1.000	T	22	62
SFT2D2	375035	genome.wustl.edu	37	1	168215941	168215941	+	3'UTR	SNP	G	G	C			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr1:168215941G>C	ENST00000271375.4	+	0	4718				ANKRD36BP1_ENST00000358576.4_RNA	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					ACGATGGTATGATTCCATTTC	0.413													ENSG00000214262																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.*4163G>C	1.37:g.168215941G>C				R	SNP	-	NULL	ENST00000271375.4	37	NULL	CCDS1271.1	1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337735	0.24253	.	.	ENSG00000214262	ENST00000358576	.	.	.	0.827	0.827	0.18835	.	.	.	.	.	T	0.33702	0.0872	.	.	.	.	.	.	.	.	.	.	.	.	T	0.25222	-1.0138	4	0.87932	D	0	.	7.4555	0.27264	0.0:0.0:1.0:0.0	.	.	.	.	D	115	.	ENSP00000351384:H115D	H	-	1	0	ANKRD36BP1	166482565	0.998000	0.40836	0.943000	0.38184	0.730000	0.41778	2.254000	0.43214	0.729000	0.32403	0.205000	0.17691	CAT	-	ANKRD36BP1	-	-		0.413	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36BP1	HGNC	protein_coding	OTTHUMT00000083827.2	0	0	0	68	68	106	0.00	0.00	G	NM_199344		168215941	-1	20	30	103	189	tier1	no_errors	ENST00000358576	ensembl	human	known	74_37	rna	16.26	13.70	SNP	0.987	C	20	103
CUL4B	8450	genome.wustl.edu	37	X	119670866	119670866	+	Silent	SNP	C	C	G	rs185389157		TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chrX:119670866C>G	ENST00000404115.3	-	17	2417	c.2016G>C	c.(2014-2016)ccG>ccC	p.P672P	CUL4B_ENST00000336592.6_Silent_p.P659P|CUL4B_ENST00000371322.5_Silent_p.P654P	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	672					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAATATTTCCCGGAACATTCT	0.348													ENSG00000158290																																					0													107.0	95.0	99.0					X																	119670866		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2016G>C	X.37:g.119670866C>G			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.P672	ENST00000404115.3	37	c.2016	CCDS35379.1	X																																																																																			-	CUL4B	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	0	0	0	31	31	41	0.00	0.00	C	NM_003588		119670866	-1	32	37	6	15	tier1	no_errors	ENST00000404115	ensembl	human	known	74_37	silent	84.21	71.15	SNP	1.000	G	32	6
EPHX1	2052	genome.wustl.edu	37	1	226026987	226026987	+	Missense_Mutation	SNP	A	A	G	rs368539734		TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr1:226026987A>G	ENST00000366837.4	+	5	858	c.662A>G	c.(661-663)tAc>tGc	p.Y221C	EPHX1_ENST00000272167.5_Missense_Mutation_p.Y221C|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	221					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CAGGAATTCTACATTCAAGGA	0.572													ENSG00000143819																																					0								A	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	72.0	80.0	77.0		662,662	4.9	0.8	1		77	0,8600		0,0,4300	no	missense,missense	EPHX1	NM_000120.3,NM_001136018.2	194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging	221/456,221/456	226026987	1,13005	2203	4300	6503	SO:0001583	missense	0			-	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.662A>G	1.37:g.226026987A>G	ENSP00000355802:p.Tyr221Cys		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like	p.Y221C	ENST00000366837.4	37	c.662	CCDS1547.1	1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619127	0.66787	2.27E-4	0.0	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.61742	0.08;0.08	4.87	4.87	0.63330	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.78604	0.4309	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.83247	-0.0055	10	0.87932	D	0	-4.2389	14.7656	0.69637	1.0:0.0:0.0:0.0	.	221	P07099	HYEP_HUMAN	C	221	ENSP00000272167:Y221C;ENSP00000355802:Y221C	ENSP00000272167:Y221C	Y	+	2	0	EPHX1	224093610	1.000000	0.71417	0.839000	0.33178	0.816000	0.46133	5.706000	0.68362	1.955000	0.56771	0.482000	0.46254	TAC	-	EPHX1	-	pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase		0.572	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX1	HGNC	protein_coding	OTTHUMT00000092064.1	0	0	0	69	69	44	0.00	0.00	A	NM_000120		226026987	+1	19	13	36	16	tier1	no_errors	ENST00000272167	ensembl	human	known	74_37	missense	34.55	44.83	SNP	0.992	G	19	36
PRKDC	5591	genome.wustl.edu	37	8	48739410	48739410	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr8:48739410G>A	ENST00000314191.2	-	64	8643	c.8587C>T	c.(8587-8589)Cag>Tag	p.Q2863*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q2863*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2864	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCTGCGTGCTGACAGCTAATG	0.537								Non-homologous end-joining					ENSG00000253729																									Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													11.0	14.0	13.0					8																	48739410		1998	4170	6168	SO:0001587	stop_gained	0			-		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8587C>T	8.37:g.48739410G>A	ENSP00000313420:p.Gln2863*		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q2863*	ENST00000314191.2	37	c.8587		8	.	.	.	.	.	.	.	.	.	.	G	49	15.088007	0.99822	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.55	3.75	0.43078	.	0.243294	0.34362	N	0.004027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	15.7983	0.78428	0.0:0.0:0.7154:0.2846	.	.	.	.	X	2863	.	ENSP00000313420:Q2863X	Q	-	1	0	PRKDC	48901963	1.000000	0.71417	0.153000	0.22517	0.433000	0.31745	4.437000	0.59955	0.684000	0.31448	0.655000	0.94253	CAG	-	PRKDC	-	NULL		0.537	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		0	0	0	96	96	56	0.00	0.00	G	NM_001081640		48739410	-1	6	2	23	18	tier1	no_errors	ENST00000314191	ensembl	human	known	74_37	nonsense	20.69	10.00	SNP	0.998	A	6	23
A2MP1	3	genome.wustl.edu	37	12	9416382	9416382	+	IGR	SNP	T	T	C			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr12:9416382T>C								RP11-118B22.4 (5826 upstream) : SNORA75 (22886 downstream)																							GTAGTTGCACTGAAATAGTAT	0.388													ENSG00000256069																																					0																																										SO:0001628	intergenic_variant	0			-																													12.37:g.9416382T>C				R	SNP	-	NULL		37	NULL		12																																																																																			-	A2MP1	-	-	0	0.388					A2MP1	HGNC			0	0	0	80	80	95	0.00	0.00	T			9416382	-1	14	22	52	67	tier1	no_errors	ENST00000544183	ensembl	human	known	74_37	rna	21.21	24.44	SNP	0.001	C	14	52
MYH3	4621	genome.wustl.edu	37	17	10541189	10541189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:10541189C>A	ENST00000583535.1	-	28	3880	c.3793G>T	c.(3793-3795)Gag>Tag	p.E1265*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.E1265*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1265					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGAATTTCCTCATTCTTGCCC	0.527													ENSG00000109063																																					0													78.0	69.0	72.0					17																	10541189		2203	4300	6503	SO:0001587	stop_gained	0			-		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3793G>T	17.37:g.10541189C>A	ENSP00000464317:p.Glu1265*		Q15492	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1265*	ENST00000583535.1	37	c.3793	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	43	10.230431	0.99365	.	.	ENSG00000109063	ENST00000226209	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4593	0.94910	0.0:1.0:0.0:0.0	.	.	.	.	X	1265	.	ENSP00000226209:E1265X	E	-	1	0	MYH3	10481914	1.000000	0.71417	0.996000	0.52242	0.815000	0.46073	7.818000	0.86416	2.665000	0.90641	0.655000	0.94253	GAG	-	MYH3	-	pfam_Myosin_tail,superfamily_Prefoldin		0.527	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	0	0	0	59	59	118	0.00	0.00	C	NM_002470		10541189	-1	7	16	11	21	tier1	no_errors	ENST00000226209	ensembl	human	known	74_37	nonsense	38.89	43.24	SNP	1.000	A	7	11
NALCN	259232	genome.wustl.edu	37	13	101763479	101763479	+	Missense_Mutation	SNP	C	C	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr13:101763479C>T	ENST00000251127.6	-	19	2372	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	764					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATTTACCTGCGCTCTTGGCG	0.552													ENSG00000102452																																					0													175.0	165.0	168.0					13																	101763479		2203	4300	6503	SO:0001583	missense	0			-	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2291G>A	13.37:g.101763479C>T	ENSP00000251127:p.Arg764His		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R764H	ENST00000251127.6	37	c.2291	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010209	0.93346	.	.	ENSG00000102452	ENST00000251127	D	0.97831	-4.56	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.97904	0.9311	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.64595	0.927	D	0.98450	1.0591	10	0.52906	T	0.07	.	19.518	0.95171	0.0:1.0:0.0:0.0	.	764	Q8IZF0	NALCN_HUMAN	H	764	ENSP00000251127:R764H	ENSP00000251127:R764H	R	-	2	0	NALCN	100561480	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.298000	0.78815	2.615000	0.88500	0.650000	0.86243	CGC	-	LCN	-	NULL		0.552	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN	HGNC	protein_coding	OTTHUMT00000045663.2	0	0	0	45	45	68	0.00	0.00	C	NM_052867		101763479	-1	34	36	10	10	tier1	no_errors	ENST00000251127	ensembl	human	known	74_37	missense	77.27	78.26	SNP	1.000	T	34	10
SCUBE1	80274	genome.wustl.edu	37	22	43600071	43600071	+	Missense_Mutation	SNP	T	T	C			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr22:43600071T>C	ENST00000360835.4	-	22	3025	c.2899A>G	c.(2899-2901)Atg>Gtg	p.M967V		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	967					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGTGGGAACATCTCCTTGGAT	0.577													ENSG00000159307																																					0													168.0	151.0	157.0					22																	43600071		2203	4300	6503	SO:0001583	missense	0			-		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2899A>G	22.37:g.43600071T>C	ENSP00000354080:p.Met967Val		Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.M967V	ENST00000360835.4	37	c.2899	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	T	21.4	4.149901	0.78001	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.85411	-1.98	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	N	0.24115	0.695	0.80722	D	1	P	0.46912	0.886	P	0.47251	0.542	T	0.81258	-0.1014	10	0.45353	T	0.12	.	13.6064	0.62050	0.0:0.0:0.0:1.0	.	967	Q8IWY4	SCUB1_HUMAN	V	967;597	ENSP00000354080:M967V	ENSP00000354080:M967V	M	-	1	0	SCUBE1	41930015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.918000	0.69996	1.872000	0.54250	0.482000	0.46254	ATG	-	SCUBE1	-	NULL		0.577	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	0	0	0	71	71	141	0.00	0.00	T	NM_173050		43600071	-1	15	22	48	100	tier1	no_errors	ENST00000360835	ensembl	human	known	74_37	missense	23.81	18.03	SNP	1.000	C	15	48
MYH3	4621	genome.wustl.edu	37	17	10541190	10541190	+	Missense_Mutation	SNP	A	A	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:10541190A>T	ENST00000583535.1	-	28	3879	c.3792T>A	c.(3790-3792)aaT>aaA	p.N1264K	MYH3_ENST00000226209.7_Missense_Mutation_p.N1264K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1264					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GAATTTCCTCATTCTTGCCCC	0.527													ENSG00000109063																																					0													78.0	69.0	72.0					17																	10541190		2203	4300	6503	SO:0001583	missense	0			-		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3792T>A	17.37:g.10541190A>T	ENSP00000464317:p.Asn1264Lys		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N1264K	ENST00000583535.1	37	c.3792	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786336	0.31593	.	.	ENSG00000109063	ENST00000226209	T	0.77358	-1.09	5.36	-8.36	0.00980	Myosin tail (1);	.	.	.	.	T	0.66458	0.2791	M	0.64997	1.995	0.23043	N	0.99838	B	0.17268	0.021	B	0.25987	0.065	T	0.53809	-0.8386	9	0.30078	T	0.28	.	3.9801	0.09492	0.3499:0.1232:0.4004:0.1266	.	1264	P11055	MYH3_HUMAN	K	1264	ENSP00000226209:N1264K	ENSP00000226209:N1264K	N	-	3	2	MYH3	10481915	0.000000	0.05858	0.915000	0.36163	0.834000	0.47266	-1.492000	0.02300	-1.074000	0.03132	-0.290000	0.09829	AAT	-	MYH3	-	pfam_Myosin_tail,superfamily_Prefoldin		0.527	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	0	0	0	59	59	117	0.00	0.00	A	NM_002470		10541190	-1	7	17	11	21	tier1	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	38.89	44.74	SNP	0.050	T	7	11
MAT2B	27430	genome.wustl.edu	37	5	162943725	162943725	+	Intron	SNP	G	G	C			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr5:162943725G>C	ENST00000321757.6	+	5	859				MAT2B_ENST00000280969.5_Intron|MAT2B_ENST00000518095.1_Missense_Mutation_p.R243T	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta						cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	CTGGTAAGAAGGATTCCTGAG	0.493													ENSG00000038274																																					0													70.0	66.0	67.0					5																	162943725		2203	4300	6503	SO:0001627	intron_variant	0			-	AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	6905	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 23E, member 1"""	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.720+8G>C	5.37:g.162943725G>C			B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Missense_Mutation	SNP	pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like	p.R243T	ENST00000321757.6	37	c.728	CCDS4365.1	5	.	.	.	.	.	.	.	.	.	.	G	9.889	1.203760	0.22121	.	.	ENSG00000038274	ENST00000518095	.	.	.	3.6	-7.21	0.01490	.	.	.	.	.	T	0.15349	0.0370	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17471	-1.0368	6	.	.	.	.	2.5912	0.04843	0.2162:0.1633:0.4478:0.1726	.	243	Q9NZL9-3	.	T	243	.	.	R	+	2	0	MAT2B	162876303	0.682000	0.27624	0.000000	0.03702	0.143000	0.21401	-0.340000	0.07821	-2.378000	0.00596	-0.708000	0.03648	AGG	-	MAT2B	-	NULL		0.493	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2B	HGNC	protein_coding	OTTHUMT00000252749.2	0	0	0	60	60	82	0.00	0.00	G	NM_013283		162943725	+1	17	21	43	86	tier1	no_errors	ENST00000518095	ensembl	human	known	74_37	missense	28.33	19.63	SNP	0.000	C	17	43
MYBPC2	4606	genome.wustl.edu	37	19	50962526	50962526	+	Missense_Mutation	SNP	C	C	G			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr19:50962526C>G	ENST00000357701.5	+	23	2805	c.2754C>G	c.(2752-2754)aaC>aaG	p.N918K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	918	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGATCGAGAACATGAAGGACA	0.701													ENSG00000086967																																					0													24.0	28.0	27.0					19																	50962526		2099	4218	6317	SO:0001583	missense	0			-		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2754C>G	19.37:g.50962526C>G	ENSP00000350332:p.Asn918Lys		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N918K	ENST00000357701.5	37	c.2754	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	c	16.68	3.191342	0.58017	.	.	ENSG00000086967	ENST00000357701	T	0.66460	-0.21	3.74	3.74	0.42951	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.37530	U	0.002055	T	0.59595	0.2205	M	0.71920	2.185	0.41445	D	0.987942	B	0.19200	0.034	B	0.27887	0.084	T	0.51903	-0.8646	10	0.05436	T	0.98	.	9.849	0.41046	0.0:0.891:0.0:0.109	.	918	Q14324	MYPC2_HUMAN	K	918	ENSP00000350332:N918K	ENSP00000350332:N918K	N	+	3	2	MYBPC2	55654338	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.718000	0.47236	2.026000	0.59711	0.401000	0.26515	AAC	-	MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.701	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	0	0	0	51	51	16	0.00	0.00	C	NM_004533		50962526	+1	6	5	30	17	tier1	no_errors	ENST00000357701	ensembl	human	known	74_37	missense	16.67	21.74	SNP	1.000	G	6	30
SURF6	6838	genome.wustl.edu	37	9	136199122	136199122	+	Missense_Mutation	SNP	C	C	A			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr9:136199122C>A	ENST00000372022.4	-	5	934	c.669G>T	c.(667-669)agG>agT	p.R223S	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	223					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCCCCTTCACCCTCTGCCTCT	0.667													ENSG00000148296																																					0													59.0	64.0	62.0					9																	136199122		2203	4289	6492	SO:0001583	missense	0			-	AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.669G>T	9.37:g.136199122C>A	ENSP00000361092:p.Arg223Ser		Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	pfam_Surf6	p.R223S	ENST00000372022.4	37	c.669	CCDS6962.1	9	.	.	.	.	.	.	.	.	.	.	C	10.90	1.479899	0.26511	.	.	ENSG00000148296	ENST00000372022	T	0.13901	2.55	4.94	1.82	0.25136	.	0.716909	0.13252	N	0.401984	T	0.08846	0.0219	L	0.34521	1.04	0.19300	N	0.99998	B	0.18610	0.029	B	0.14023	0.01	T	0.35375	-0.9791	10	0.18710	T	0.47	-8.4624	6.0412	0.19736	0.1479:0.619:0.0:0.2331	.	223	O75683	SURF6_HUMAN	S	223	ENSP00000361092:R223S	ENSP00000361092:R223S	R	-	3	2	SURF6	135188943	0.000000	0.05858	0.991000	0.47740	0.887000	0.51463	-0.413000	0.07123	1.022000	0.39626	0.467000	0.42956	AGG	-	SURF6	-	pfam_Surf6		0.667	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	HGNC	protein_coding	OTTHUMT00000054905.1	0	0	0	25	25	34	0.00	0.00	C	NM_006753		136199122	-1	10	20	21	32	tier1	no_errors	ENST00000372022	ensembl	human	known	74_37	missense	32.26	37.74	SNP	0.187	A	10	21
GRIA4	2893	genome.wustl.edu	37	11	105850542	105850542	+	3'UTR	SNP	C	C	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr11:105850542C>T	ENST00000530497.1	+	0	2785				GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000393127.2_3'UTR|GRIA4_ENST00000282499.5_3'UTR			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GGACACGCCACGCGCGGGTCT	0.522													ENSG00000152578																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.*76C>T	11.37:g.105850542C>T			Q86XE8	R	SNP	-	NULL	ENST00000530497.1	37	NULL	CCDS8333.1	11																																																																																			-	GRIA4	-	-		0.522	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	0	0	0	26	26	83	0.00	0.00	C			105850542	+1	10	29	13	58	tier1	no_errors	ENST00000533094	ensembl	human	putative	74_37	rna	43.48	33.33	SNP	0.000	T	10	13
LOC105372257	105372257	genome.wustl.edu	37	19	6954619	6954619	+	RNA	SNP	T	T	C			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr19:6954619T>C	ENST00000593558.1	+	0	219				EMR4P_ENST00000600751.1_RNA																							TCTTACCGTTTTGGTTTGGGT	0.423													ENSG00000268845																																					0																																												0			-																													19.37:g.6954619T>C				R	SNP	-	NULL	ENST00000593558.1	37	NULL		19																																																																																			-	RP11-1137G4.3	-	-		0.423	RP11-1137G4.3-001	KNOWN	basic	antisense	ENSG00000268845	Clone_based_vega_gene	antisense	OTTHUMT00000458493.1	0	0	0	84	84	166	0.00	0.00	T			6954619	+1	27	44	128	125	tier1	no_errors	ENST00000593558	ensembl	human	known	74_37	rna	17.42	25.88	SNP	0.011	C	27	128
ABCB1	5243	genome.wustl.edu	37	7	87214969	87214969	+	Silent	SNP	A	A	G			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr7:87214969A>G	ENST00000265724.3	-	5	562	c.145T>C	c.(145-147)Ttg>Ctg	p.L49L	ABCB1_ENST00000543898.1_Silent_p.L49L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	49					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ACCATATACAACTTGTCAAGC	0.393													ENSG00000085563																																					0													65.0	68.0	67.0					7																	87214969		2203	4300	6503	SO:0001819	synonymous_variant	0			-	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.145T>C	7.37:g.87214969A>G			A8K294|B5AK60|Q12755|Q14812	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L49	ENST00000265724.3	37	c.145	CCDS5608.1	7																																																																																			-	ABCB1	-	superfamily_ABC1_TM_dom		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	0	0	0	46	46	118	0.00	0.00	A	NM_000927		87214969	-1	6	22	23	80	tier1	no_errors	ENST00000265724	ensembl	human	known	74_37	silent	20.00	21.57	SNP	0.210	G	6	23
LPXN	9404	genome.wustl.edu	37	11	58338061	58338061	+	Missense_Mutation	SNP	G	G	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr11:58338061G>T	ENST00000395074.2	-	2	227	c.139C>A	c.(139-141)Ctt>Att	p.L47I	LPXN_ENST00000528489.1_Silent_p.S42S|LPXN_ENST00000528954.1_Missense_Mutation_p.L52I	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	47					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGAATAGAAAGGATCTCCGAA	0.413													ENSG00000110031																																					0													94.0	90.0	92.0					11																	58338061		2201	4295	6496	SO:0001583	missense	0			-	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.139C>A	11.37:g.58338061G>T	ENSP00000378512:p.Leu47Ile		B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.L52I	ENST00000395074.2	37	c.154	CCDS7969.1	11	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255191	0.22965	.	.	ENSG00000110031	ENST00000528954;ENST00000395074	T;T	0.30981	1.51;1.52	4.96	-0.159	0.13379	.	1.478620	0.04346	N	0.354819	T	0.28034	0.0691	L	0.57536	1.79	0.09310	N	1	B;B	0.14012	0.007;0.009	B;B	0.19946	0.006;0.027	T	0.21895	-1.0232	10	0.22706	T	0.39	.	4.0233	0.09675	0.2748:0.3611:0.3642:0.0	.	52;47	B4DV71;O60711	.;LPXN_HUMAN	I	52;47	ENSP00000431284:L52I;ENSP00000378512:L47I	ENSP00000378512:L47I	L	-	1	0	LPXN	58094637	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.003000	0.13083	0.355000	0.24131	0.557000	0.71058	CTT	-	LPXN	-	pirsf_Leupaxin		0.413	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPXN	HGNC	protein_coding	OTTHUMT00000394709.1	0	0	0	41	41	78	0.00	0.00	G	NM_004811		58338061	-1	11	25	31	81	tier1	no_errors	ENST00000528954	ensembl	human	known	74_37	missense	26.19	23.58	SNP	0.000	T	11	31
NRXN2	9379	genome.wustl.edu	37	11	64374700	64374700	+	Missense_Mutation	SNP	T	T	C			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr11:64374700T>C	ENST00000377551.1	-	22	5318	c.5107A>G	c.(5107-5109)Aag>Gag	p.K1703E	NRXN2_ENST00000265459.6_Missense_Mutation_p.K1703E|NRXN2_ENST00000301894.2_Missense_Mutation_p.K657E|NRXN2_ENST00000409571.1_Missense_Mutation_p.K1696E|NRXN2_ENST00000377559.3_Missense_Mutation_p.K1633E			Q9P2S2	NRX2A_HUMAN	neurexin 2	1703					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTGTTCTTCTTGGCCTTGCTG	0.642													ENSG00000110076																																					0													40.0	47.0	45.0					11																	64374700		2201	4297	6498	SO:0001583	missense	0			-		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.5107A>G	11.37:g.64374700T>C	ENSP00000366774:p.Lys1703Glu		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.K1703E	ENST00000377551.1	37	c.5107	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	T	16.82	3.228368	0.58777	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.67171	0.25;-0.25;-0.22;-0.25;-0.14	4.45	3.32	0.38043	.	0.000000	0.44688	U	0.000433	T	0.71888	0.3393	L	0.46157	1.445	0.44890	D	0.997909	D;P;D;D	0.76494	0.999;0.61;0.998;0.993	D;B;D;P	0.85130	0.997;0.366;0.993;0.9	T	0.70407	-0.4880	10	0.44086	T	0.13	.	7.4111	0.27017	0.0:0.1063:0.0:0.8937	.	1633;1703;1449;657	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	E	657;1703;1633;1703;1633;1696	ENSP00000301894:K657E;ENSP00000366774:K1703E;ENSP00000366782:K1633E;ENSP00000265459:K1703E;ENSP00000386416:K1696E	ENSP00000265459:K1703E	K	-	1	0	NRXN2	64131276	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	2.695000	0.47043	1.650000	0.50662	0.254000	0.18369	AAG	-	NRXN2	-	NULL		0.642	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	0	0	0	37	37	30	0.00	0.00	T	NM_015080		64374700	-1	12	4	34	27	tier1	no_errors	ENST00000265459	ensembl	human	known	74_37	missense	26.09	12.90	SNP	1.000	C	12	34
KLRG1	10219	genome.wustl.edu	37	12	9162633	9162633	+	3'UTR	SNP	C	C	G			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr12:9162633C>G	ENST00000266551.4	+	0	612				KLRG1_ENST00000356986.3_3'UTR|KLRG1_ENST00000538029.1_3'UTR	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1						cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GAAGAATAAACCTAGCTggca	0.463													ENSG00000139187																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	6380	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member A"""	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.*9C>G	12.37:g.9162633C>G			B7ZAM2|O43198|O75613	R	SNP	-	NULL	ENST00000266551.4	37	NULL		12																																																																																			-	KLRG1	-	-		0.463	KLRG1-002	KNOWN	basic	protein_coding	KLRG1	HGNC	protein_coding	OTTHUMT00000399145.1	0	0	0	11	11	58	0.00	0.00	C	NM_005810		9162633	+1	7	13	16	25	tier1	no_errors	ENST00000538029	ensembl	human	known	74_37	rna	30.43	34.21	SNP	0.149	G	7	16
DNAH9	1770	genome.wustl.edu	37	17	11593505	11593505	+	Missense_Mutation	SNP	C	C	T	rs141375188	byFrequency	TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:11593505C>T	ENST00000262442.4	+	20	4434	c.4366C>T	c.(4366-4368)Cgg>Tgg	p.R1456W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1456W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1456	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCCCCACCCACGGACCAATGT	0.498													ENSG00000007174																																					0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	78.0	78.0		4366	2.4	0.0	17	dbSNP_134	78	3,8597	3.0+/-9.4	0,3,4297	yes	missense	DNAH9	NM_001372.3	101	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	1456/4487	11593505	4,13002	2203	4300	6503	SO:0001583	missense	0			-	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4366C>T	17.37:g.11593505C>T	ENSP00000262442:p.Arg1456Trp		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1456W	ENST00000262442.4	37	c.4366	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905405	0.33628	2.27E-4	3.49E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.61742	0.08;0.08	5.57	2.37	0.29283	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000001	D	0.82481	0.5046	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87056	0.2150	10	0.87932	D	0	.	14.7896	0.69830	0.3756:0.6243:0.0:0.0	.	1456	Q9NYC9	DYH9_HUMAN	W	1456;1456;38	ENSP00000262442:R1456W;ENSP00000414874:R1456W	ENSP00000262442:R1456W	R	+	1	2	DNAH9	11534230	0.512000	0.26186	0.011000	0.14972	0.018000	0.09664	1.168000	0.31859	0.263000	0.21812	0.655000	0.94253	CGG	rs141375188	DH9	-	pfam_Dynein_heavy_dom-2		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DH9	HGNC	protein_coding	OTTHUMT00000252756.2	0	0	0	66	66	131	0.00	0.00	C	NM_001372		11593505	+1	26	42	25	23	tier1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	50.98	63.64	SNP	0.951	T	26	25
SAMD9	54809	genome.wustl.edu	37	7	92735360	92735360	+	Silent	SNP	C	C	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr7:92735360C>T	ENST00000379958.2	-	3	320	c.51G>A	c.(49-51)gaG>gaA	p.E17E		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	17	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATTTACATCCTCTTTTGTCC	0.318													ENSG00000205413																																					0													83.0	83.0	83.0					7																	92735360		2202	4297	6499	SO:0001819	synonymous_variant	0			-	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.51G>A	7.37:g.92735360C>T			A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.E17	ENST00000379958.2	37	c.51	CCDS34680.1	7																																																																																			-	SAMD9	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.318	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	0	0	0	56	56	122	0.00	0.00	C	NM_017654		92735360	-1	5	28	39	41	tier1	no_errors	ENST00000379958	ensembl	human	known	74_37	silent	11.36	40.58	SNP	0.768	T	5	39
PLCB4	5332	genome.wustl.edu	37	20	9404506	9404506	+	Missense_Mutation	SNP	A	A	C			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr20:9404506A>C	ENST00000378493.1	+	24	2410	c.2395A>C	c.(2395-2397)Att>Ctt	p.I799L	PLCB4_ENST00000414679.2_Missense_Mutation_p.I811L|PLCB4_ENST00000378473.3_Missense_Mutation_p.I811L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.I799L|PLCB4_ENST00000278655.4_Missense_Mutation_p.I799L|PLCB4_ENST00000334005.3_Missense_Mutation_p.I799L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	799					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATATCGACACATTTCCCTTCG	0.428													ENSG00000101333																																					0													95.0	81.0	86.0					20																	9404506		2203	4300	6503	SO:0001583	missense	0			-		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2395A>C	20.37:g.9404506A>C	ENSP00000367754:p.Ile799Leu		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.I799L	ENST00000378493.1	37	c.2395	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790583	0.90367	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66	5.72	5.72	0.89469	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.047016	0.85682	D	0.000000	T	0.31136	0.0787	L	0.52011	1.625	0.80722	D	1	P;P;B;P	0.44309	0.832;0.701;0.199;0.505	P;P;P;P	0.61477	0.889;0.659;0.572;0.565	T	0.00514	-1.1695	10	0.42905	T	0.14	.	16.0205	0.80486	1.0:0.0:0.0:0.0	.	811;646;799;799	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	L	799;811;799;799;799;647	ENSP00000334105:I799L;ENSP00000367734:I811L;ENSP00000278655:I799L;ENSP00000367754:I799L;ENSP00000367762:I799L;ENSP00000390616:I647L	ENSP00000278655:I799L	I	+	1	0	PLCB4	9352506	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.085000	0.94083	2.194000	0.70268	0.533000	0.62120	ATT	-	PLCB4	-	pirsf_PLC-beta,superfamily_C2_dom,smart_C2_dom		0.428	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	0	0	1	60	60	136	0.00	0.73	A			9404506	+1	17	34	37	62	tier1	no_errors	ENST00000334005	ensembl	human	known	74_37	missense	30.91	35.42	SNP	1.000	C	17	37
LAMC3	10319	genome.wustl.edu	37	9	133954581	133954581	+	Silent	SNP	C	C	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr9:133954581C>T	ENST00000361069.4	+	23	3956	c.3823C>T	c.(3823-3825)Ctg>Ttg	p.L1275L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1275	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGCGAAGGCCCTGGAGAAGAC	0.632													ENSG00000050555																																					0													50.0	43.0	45.0					9																	133954581		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3823C>T	9.37:g.133954581C>T			B1APX9|B1APY0|Q59H72	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1275	ENST00000361069.4	37	c.3823	CCDS6938.1	9																																																																																			-	LAMC3	-	NULL		0.632	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	0	0	0	61	61	27	0.00	0.00	C	NM_006059		133954581	+1	28	13	54	29	tier1	no_errors	ENST00000361069	ensembl	human	known	74_37	silent	34.15	30.95	SNP	0.318	T	28	54
SOX4	6659	genome.wustl.edu	37	6	21595992	21595992	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr6:21595992delC	ENST00000244745.1	+	1	2021	c.1227delC	c.(1225-1227)aacfs	p.N409fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.N409fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	409					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TCGACCTGAACCCCAGCTCAA	0.642													ENSG00000124766																																					0													29.0	25.0	26.0					6																	21595992		2202	4299	6501	SO:0001589	frameshift_variant	0				AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.1227delC	6.37:g.21595992delC	ENSP00000244745:p.Asn409fs			Frame_Shift_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.S411fs	ENST00000244745.1	37	c.1227	CCDS4547.1	6																																																																																				SOX4	-	pirsf_SOX-12/11/4a		0.642	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX4	HGNC	protein_coding	OTTHUMT00000043301.1	0	0	0	95	95	91	0.00	0.00	C	NM_003107		21595992	+1	51	49	50	47	tier1	no_errors	ENST00000244745	ensembl	human	known	74_37	frame_shift_del	50.50	51.04	DEL	1.000	-	51	50
CTTN	2017	genome.wustl.edu	37	11	70265954	70265954	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr11:70265954delC	ENST00000301843.8	+	9	877	c.671delC	c.(670-672)tccfs	p.S224fs	CTTN_ENST00000538675.1_5'Flank|CTTN_ENST00000346329.3_Frame_Shift_Del_p.S224fs|CTTN_ENST00000376561.3_Frame_Shift_Del_p.S224fs	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	224					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AAGCACGAGTCCCAGAAAGGT	0.478													ENSG00000085733																																					0													81.0	67.0	72.0					11																	70265954		2200	4294	6494	SO:0001589	frameshift_variant	0				AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.671delC	11.37:g.70265954delC	ENSP00000301843:p.Ser224fs		Q8N707|Q96H99	Frame_Shift_Del	DEL	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.Q225fs	ENST00000301843.8	37	c.671	CCDS41680.1	11																																																																																				CTTN	-	pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin		0.478	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	HGNC	protein_coding	OTTHUMT00000259233.2	0	0	0	64	64	148	0.00	0.00	C	NM_138565		70265954	+1	23	28	50	82	tier1	no_errors	ENST00000301843	ensembl	human	known	74_37	frame_shift_del	31.51	25.45	DEL	1.000	-	23	50
DBF4B	80174	genome.wustl.edu	37	17	42828395	42828395	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr17:42828395delT	ENST00000315005.3	+	14	1760	c.1622delT	c.(1621-1623)cttfs	p.L541fs	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	541					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTCTCAGACTTGGATACCTT	0.562													ENSG00000161692																																					0													135.0	116.0	123.0					17																	42828395		2203	4300	6503	SO:0001589	frameshift_variant	0				AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1622delT	17.37:g.42828395delT	ENSP00000323663:p.Leu541fs		D3DX56|Q8TEX0|Q96B19|Q9H912	Frame_Shift_Del	DEL	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.G542fs	ENST00000315005.3	37	c.1622	CCDS11485.1	17																																																																																				DBF4B	-	NULL		0.562	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DBF4B	HGNC	protein_coding	OTTHUMT00000385930.1	0	0	0	65	65	92	0.00	0.00	T	NM_025104		42828395	+1	22	13	73	75	tier1	no_errors	ENST00000315005	ensembl	human	known	74_37	frame_shift_del	23.16	14.77	DEL	0.001	-	22	73
ANKRD20A8P	729171	genome.wustl.edu	37	2	95494915	95494915	+	RNA	SNP	C	C	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr2:95494915C>T	ENST00000432432.2	-	0	1120					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		AATTAATTACCTTCAAGGAAG	0.343													ENSG00000229089																																					0																																												0			-			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95494915C>T			A6NC18	R	SNP	-	NULL	ENST00000432432.2	37	NULL		2																																																																																			-	ANKRD20A8P	-	-		0.343	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	ANKRD20A8P	HGNC	pseudogene	OTTHUMT00000451404.1	0	0	0	244	244	0	0.00	0.00	C			95494915	-1	63	0	240	0	tier1	no_errors	ENST00000432432	ensembl	human	known	74_37	rna	20.72	0.00	SNP	0.911	T	63	240
WASH3P	374666	genome.wustl.edu	37	15	102516816	102516816	+	RNA	SNP	G	G	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr15:102516816G>T	ENST00000557932.1	+	0	1679				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGATGCAAACGTCTCGGGGTC	0.527													ENSG00000248472																																					0																																												0			-			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516816G>T				R	SNP	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			-	DDX11L9	-	-		0.527	WASH3P-001	KNOWN	basic	processed_transcript	DDX11L9	HGNC	pseudogene	OTTHUMT00000417608.1	0	0	0	13	13	0	0.00	0.00	G	NM_199163		102516816	-1	5	0	12	0	tier1	no_errors	ENST00000559159	ensembl	human	known	74_37	rna	29.41	0.00	SNP	0.000	T	5	12
AC002485.1	0	genome.wustl.edu	37	6	67069388	67069389	+	RNA	INS	-	-	ACACACACACAT	rs12210657	byFrequency	TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr6:67069388_67069389insACACACACACAT	ENST00000408354.1	+	0	71_72																											cacacacacacaTATATATGag	0.446													ENSG00000221281																																					0																																												0																																6.37:g.67069388_67069389insACACACACACAT				R	INS	-	NULL	ENST00000408354.1	37	NULL		6																																																																																				AC002485.1	-	-		0.446	AC002485.1-201	NOVEL	basic	miRNA	ENSG00000221281	Clone_based_ensembl_gene	miRNA		0	0	0	0	0	0	0.00	0.00	-			67069389	+1	0	0	0	0	tier1	no_errors	ENST00000408354	ensembl	human	novel	74_37	rna	0.00	0.00	INS	0.005:0.011	ACACACACACAT	0	0
RP11-509A17.3	0	genome.wustl.edu	37	15	20563423	20563423	+	lincRNA	DEL	C	C	-			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr15:20563423delC	ENST00000557528.1	+	0	1812				AC026495.1_ENST00000581090.1_RNA																							cccttcctctcccttcctctc	0.672													ENSG00000265002																																					0																																												0																																15.37:g.20563423delC				R	DEL	-	NULL	ENST00000557528.1	37	NULL		15																																																																																				AC026495.1	-	-		0.672	RP11-509A17.3-001	KNOWN	basic	lincRNA	ENSG00000265002	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000414658.1	0	0	0	44	44	2	0.00	0.00	C			20563423	+1	6	0	35	7	tier1	no_errors	ENST00000581090	ensembl	human	novel	74_37	rna	14.63	0.00	DEL	0.102	-	6	35
LOC388882	388882	genome.wustl.edu	37	22	23825282	23825282	+	lincRNA	SNP	C	C	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr22:23825282C>T	ENST00000320372.9	-	0	133																											GCTCCCTTTTCACACGCTTTT	0.438													ENSG00000178248																																					0																																												0			-																													22.37:g.23825282C>T				R	SNP	-	NULL	ENST00000320372.9	37	NULL		22																																																																																			-	AP000345.1	-	-		0.438	AP000345.1-001	KNOWN	basic	lincRNA	LOC388882	Clone_based_vega_gene	lincRNA	OTTHUMT00000319544.1	1	1	0	313	313	0	0.32	0.00	C			23825282	-1	70	0	249	0	tier1	no_errors	ENST00000320372	ensembl	human	known	74_37	rna	21.94	0.00	SNP	0.000	T	70	249
POTEM	641455	genome.wustl.edu	37	14	20012819	20012822	+	Intron	DEL	AAAG	AAAG	-	rs61976405	byFrequency	TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	AAAG	AAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr14:20012819_20012822delAAAG	ENST00000551509.1	-	4	862				RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M											endometrium(4)|kidney(1)|lung(4)	9						ataaaaataaaaagaaagaaagaa	0.417													ENSG00000187537																																					0																																										SO:0001627	intron_variant	0					CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.811-1162CTTT>-	14.37:g.20012827_20012830delAAAG				Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I314fs	ENST00000551509.1	37	c.937_934	CCDS45076.1	14																																																																																				POTEM	-	NULL		0.417	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	0	0	0	42	42	0	0.00	0.00	AAAG	NM_001145442		20012822	-1	8	0	52	0	tier1	no_errors	ENST00000547722	ensembl	human	known	74_37	frame_shift_del	13.33	0.00	DEL	0.009:0.013:0.017:0.020	-	8	52
PQLC2L	152078	genome.wustl.edu	37	3	157318056	157318056	+	Missense_Mutation	SNP	G	G	T			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr3:157318056G>T	ENST00000449199.2	+	5	518	c.377G>T	c.(376-378)tGc>tTc	p.C126F	C3orf55_ENST00000426338.2_Silent_p.L96L|C3orf55_ENST00000461040.1_Intron	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN		126										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			GGAGTCCTCTGCCCTGTATAT	0.388													ENSG00000174899																																					0													74.0	64.0	67.0					3																	157318056		692	1591	2283	SO:0001583	missense	0			-																												ENST00000449199.2:c.377G>T	3.37:g.157318056G>T	ENSP00000413228:p.Cys126Phe		C9JP04|C9JXB5|Q8N6Q6	Missense_Mutation	SNP	NULL	p.C126F	ENST00000449199.2	37	c.377	CCDS46943.1	3	.	.	.	.	.	.	.	.	.	.	G	9.149	1.015889	0.19355	.	.	ENSG00000174899	ENST00000449199	T	0.53640	0.61	3.54	-2.96	0.05547	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.27673	-1.0067	8	0.72032	D	0.01	.	3.307	0.07003	0.2666:0.0:0.2616:0.4718	.	126	A1A4F0	CC055_HUMAN	F	126	ENSP00000413228:C126F	ENSP00000413228:C126F	C	+	2	0	C3orf55	158800750	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.935000	0.03950	-0.683000	0.05190	0.655000	0.94253	TGC	-	C3orf55	-	NULL		0.388	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf55	HGNC	protein_coding	OTTHUMT00000352018.1	0	0	0	64	64	128	0.00	0.00	G			157318056	+1	4	2	35	106	tier1	no_errors	ENST00000449199	ensembl	human	known	74_37	missense	10.26	1.85	SNP	0.000	T	4	35
SEC14L5	9717	genome.wustl.edu	37	16	5061242	5061242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr16:5061242C>A	ENST00000251170.7	+	15	2127	c.1947C>A	c.(1945-1947)taC>taA	p.Y649*	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	649	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AACTTCTCTACTACTGTGAGG	0.637													ENSG00000103184																																					0													27.0	30.0	29.0					16																	5061242		1934	4142	6076	SO:0001587	stop_gained	0			-	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1947C>A	16.37:g.5061242C>A	ENSP00000251170:p.Tyr649*			Nonsense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.Y649*	ENST00000251170.7	37	c.1947	CCDS45403.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.716552	0.96830	.	.	ENSG00000103184	ENST00000251170	.	.	.	4.45	3.49	0.39957	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.095	7.7232	0.28744	0.0:0.7443:0.0:0.2557	.	.	.	.	X	649	.	ENSP00000251170:Y649X	Y	+	3	2	SEC14L5	5001243	1.000000	0.71417	0.998000	0.56505	0.169000	0.22640	2.329000	0.43876	1.232000	0.43678	0.561000	0.74099	TAC	-	SEC14L5	-	superfamily_GOLD,pfscan_GOLD		0.637	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1	0	0	0	81	81	46	0.00	0.00	C			5061242	+1	12	3	60	34	tier1	no_errors	ENST00000251170	ensembl	human	known	74_37	nonsense	16.67	8.11	SNP	1.000	A	12	60
HUWE1	10075	genome.wustl.edu	37	X	53589091	53589093	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chrX:53589091_53589093delTCC	ENST00000342160.3	-	53	7774_7776	c.7317_7319delGGA	c.(7315-7320)gaggaa>gaa	p.2439_2440EE>E	HUWE1_ENST00000262854.6_In_Frame_Del_p.2439_2440EE>E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2439	Asp-rich.|Glu-rich.				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						ttcctcatcttcctcctcctcct	0.532													ENSG00000086758		3	0.000794702	0.0	0.0029	3775	,	,		17096	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001651	inframe_deletion	0				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.7317_7319delGGA	X.37:g.53589100_53589102delTCC	ENSP00000340648:p.Glu2440del		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	In_Frame_Del	DEL	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.E2440in_frame_del	ENST00000342160.3	37	c.7319_7317	CCDS35301.1	X																																																																																				HUWE1	-	NULL		0.532	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	0	0	0	27	27	25	0.00	0.00	TCC	XM_497119		53589093	-1	3	2	20	43	tier1	no_errors	ENST00000262854	ensembl	human	known	74_37	in_frame_del	13.04	4.44	DEL	1.000:1.000:1.000	-	3	20
NFAT5	10725	genome.wustl.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	CAG	-	rs369235958		TCGA-MB-A8JK-01A-11D-A36J-09	TCGA-MB-A8JK-10A-01D-A36M-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	307db8e1-7146-4506-b618-eba5076a6860	9be6e5e2-2506-4a0a-9cb7-a0fcb5e7834a	g.chr16:69726420_69726422delCAG	ENST00000354436.2	+	12	2956_2958	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_ENST00000349945.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	888	Poly-Gln.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473													ENSG00000102908																																					2	Substitution - coding silent(2)	endometrium(2)																																								SO:0001651	inframe_deletion	0				AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2638_2640delCAG	16.37:g.69726429_69726431delCAG	ENSP00000346420:p.Gln888del		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	pfam_RHD,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.Q901in_frame_del	ENST00000354436.2	37	c.2692_2694	CCDS10881.1	16																																																																																				NFAT5	-	NULL		0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	0	0	0	26	26	42	0.00	0.00	CAG	NM_138714		69726422	+1	3	3	20	55	tier1	no_errors	ENST00000432919	ensembl	human	known	74_37	in_frame_del	13.04	5.17	DEL	0.966:0.976:0.988	-	3	20
