#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	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_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_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADAM21	8747	genome.wustl.edu	37	14	70924602	70924602	+	Missense_Mutation	SNP	T	T	G	rs72735759	byFrequency	TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr14:70924602T>G	ENST00000603540.1	+	2	644	c.386T>G	c.(385-387)tTt>tGt	p.F129C	ADAM21_ENST00000267499.3_Missense_Mutation_p.F129C|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	129					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGTGCTTGTTTTGGGGGCTTT	0.463																																																	0													84.0	100.0	94.0					14																	70924602		2203	4300	6503	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.386T>G	14.37:g.70924602T>G	ENSP00000474385:p.Phe129Cys		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.F129C	ENST00000603540.1	37	c.386	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	T	0.044	-1.273422	0.01421	.	.	ENSG00000139985	ENST00000267499	T	0.01133	5.29	3.76	-7.52	0.01341	Peptidase M12B, propeptide (1);	1.704650	0.03782	U	0.261498	T	0.01523	0.0049	L	0.60067	1.865	0.09310	N	1	B	0.33299	0.407	B	0.37780	0.258	T	0.14924	-1.0455	10	0.46703	T	0.11	.	1.36	0.02189	0.2433:0.3101:0.2623:0.1842	.	129	Q9UKJ8	ADA21_HUMAN	C	129	ENSP00000267499:F129C	ENSP00000267499:F129C	F	+	2	0	ADAM21	69994355	0.000000	0.05858	0.007000	0.13788	0.108000	0.19459	-1.073000	0.03430	-2.633000	0.00433	-0.379000	0.06801	TTT	ADAM21	-	pfam_Peptidase_M12B_N		0.463	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	T			70924602	+1	no_errors	ENST00000267499	ensembl	human	known	70_37	missense	SNP	0.000	G
AKR1C2	1646	genome.wustl.edu	37	10	5041580	5041580	+	Intron	SNP	C	C	T	rs34515072		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr10:5041580C>T	ENST00000380753.4	-	4	557				AKR1C2_ENST00000407674.1_Intron|AKR1C2_ENST00000421196.3_Intron|RP11-499O7.7_ENST00000440414.1_RNA|RP11-499O7.7_ENST00000451575.2_RNA	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2						cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	GGTGATGCAGCGCTCCAGAGA	0.418																																																	0																																										SO:0001627	intron_variant	1646			L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.370-111G>A	10.37:g.5041580C>T			A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	RNA	SNP	-	NULL	ENST00000380753.4	37	NULL	CCDS7062.1	10																																																																																			AKR1C2	-	-		0.418	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C2	HGNC	protein_coding	OTTHUMT00000046531.1	C	NM_001354		5041580	-1	no_errors	ENST00000460124	ensembl	human	known	70_37	rna	SNP	0.000	T
ANKRD12	23253	genome.wustl.edu	37	18	9256897	9256897	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr18:9256897G>T	ENST00000262126.4	+	9	3872	c.3632G>T	c.(3631-3633)aGt>aTt	p.S1211I	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S1188I|ANKRD12_ENST00000383440.2_Missense_Mutation_p.S1188I|RP11-888D10.4_ENST00000609701.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1211						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCTGTTGCTAGTTCAGAAGAT	0.413																																																	0													59.0	61.0	60.0					18																	9256897		2201	4300	6501	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3632G>T	18.37:g.9256897G>T	ENSP00000262126:p.Ser1211Ile		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	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.S1211I	ENST00000262126.4	37	c.3632	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110536	0.77210	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	D;D	0.81908	-1.54;-1.55	5.79	5.79	0.91817	.	0.039744	0.85682	D	0.000000	D	0.91317	0.7262	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.66979	0.948;0.889	D	0.91623	0.5312	10	0.87932	D	0	-21.288	20.0417	0.97594	0.0:0.0:1.0:0.0	.	1188;1211	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	I	1188;1211	ENSP00000372932:S1188I;ENSP00000262126:S1211I	ENSP00000262126:S1211I	S	+	2	0	ANKRD12	9246897	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.736000	0.93811	0.655000	0.94253	AGT	ANKRD12	-	NULL		0.413	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	G	NM_015208		9256897	+1	no_errors	ENST00000262126	ensembl	human	known	70_37	missense	SNP	1.000	T
ANO2	57101	genome.wustl.edu	37	12	5685041	5685041	+	Silent	SNP	C	C	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr12:5685041C>T	ENST00000356134.5	-	25	2654	c.2583G>A	c.(2581-2583)caG>caA	p.Q861Q	ANO2_ENST00000327087.8_Silent_p.Q860Q|ANO2_ENST00000546188.1_Silent_p.Q861Q	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	865					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGTTTTCTGGCTGCGTCCCCT	0.493																																																	0													64.0	66.0	65.0					12																	5685041		1950	4142	6092	SO:0001819	synonymous_variant	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2583G>A	12.37:g.5685041C>T			C4N787|Q9H847	Silent	SNP	pfam_Anoctamin	p.Q861	ENST00000356134.5	37	c.2583		12																																																																																			ANO2	-	pfam_Anoctamin		0.493	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	C	NM_020373		5685041	-1	no_errors	ENST00000356134	ensembl	human	known	70_37	silent	SNP	0.090	T
ATXN1	6310	genome.wustl.edu	37	6	16327014	16327014	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr6:16327014T>C	ENST00000244769.4	-	8	2464	c.1528A>G	c.(1528-1530)Acg>Gcg	p.T510A	ATXN1_ENST00000436367.1_Missense_Mutation_p.T510A	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	510	Self-association.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGGGATGACGTGACTATGGCC	0.667																																																	0													92.0	106.0	101.0					6																	16327014		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1528A>G	6.37:g.16327014T>C	ENSP00000244769:p.Thr510Ala		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.T510A	ENST00000244769.4	37	c.1528	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422275	0.62622	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.79749	-1.3;-1.3	4.33	4.33	0.51752	.	0.160882	0.53938	D	0.000046	T	0.76083	0.3938	N	0.24115	0.695	0.51767	D	0.999939	D	0.64830	0.994	D	0.70716	0.97	T	0.77590	-0.2531	10	0.36615	T	0.2	-16.5092	13.6699	0.62418	0.0:0.0:0.0:1.0	.	510	P54253	ATX1_HUMAN	A	510	ENSP00000244769:T510A;ENSP00000416360:T510A	ENSP00000244769:T510A	T	-	1	0	ATXN1	16434993	1.000000	0.71417	0.849000	0.33467	0.984000	0.73092	3.688000	0.54699	1.814000	0.52955	0.459000	0.35465	ACG	ATXN1	-	NULL		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	T	NM_000332		16327014	-1	no_errors	ENST00000244769	ensembl	human	known	70_37	missense	SNP	0.966	C
BIRC2	329	genome.wustl.edu	37	11	102220740	102220740	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr11:102220740C>T	ENST00000227758.2	+	2	1554	c.155C>T	c.(154-156)aCa>aTa	p.T52I	BIRC2_ENST00000530675.1_Missense_Mutation_p.T3I|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.T31I	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	52					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGAATGTCTACATATTCAACT	0.408																																																	0													113.0	115.0	114.0					11																	102220740		2203	4299	6502	SO:0001583	missense	329			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.155C>T	11.37:g.102220740C>T	ENSP00000227758:p.Thr52Ile		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.T52I	ENST00000227758.2	37	c.155	CCDS8316.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.138810	0.77775	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000527465	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.65	4.74	0.60224	Baculoviral inhibition of apoptosis protein repeat (5);	0.086316	0.85682	D	0.000000	T	0.48857	0.1523	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68311	-0.5442	10	0.87932	D	0	-1.9116	13.4646	0.61245	0.0:0.9249:0.0:0.0751	.	52	Q13490	BIRC2_HUMAN	I	3;52;52;31;31	ENSP00000431723:T3I;ENSP00000227758:T52I;ENSP00000434979:T31I;ENSP00000434708:T31I	ENSP00000227758:T52I	T	+	2	0	BIRC2	101725950	0.999000	0.42202	0.960000	0.40013	0.997000	0.91878	4.729000	0.62008	1.627000	0.50400	0.655000	0.94253	ACA	BIRC2	-	pfam_BIR,smart_BIR,pfscan_BIR		0.408	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC2	HGNC	protein_coding	OTTHUMT00000394170.1	C	NM_001166		102220740	+1	no_errors	ENST00000227758	ensembl	human	known	70_37	missense	SNP	1.000	T
BRIX1	55299	genome.wustl.edu	37	5	34919960	34919960	+	Missense_Mutation	SNP	G	G	A	rs374761203		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr5:34919960G>A	ENST00000336767.5	+	3	650	c.287G>A	c.(286-288)cGt>cAt	p.R96H	RAD1_ENST00000341754.4_5'Flank|BRIX1_ENST00000506023.1_Intron	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	96	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AAAATGGATCGTAAGGATAAG	0.264																																																	0								G	HIS/ARG	0,4348		0,0,2174	48.0	47.0	47.0		287	5.2	1.0	5		47	1,8525		0,1,4262	no	missense	BRIX1	NM_018321.3	29	0,1,6436	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging	96/354	34919960	1,12873	2174	4263	6437	SO:0001583	missense	55299				CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.287G>A	5.37:g.34919960G>A	ENSP00000338862:p.Arg96His		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.R96H	ENST00000336767.5	37	c.287	CCDS34143.1	5	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843372	0.71488	0.0	1.17E-4	ENSG00000113460	ENST00000336767	T	0.42513	0.97	5.22	5.22	0.72569	Brix domain (3);Anticodon-binding (1);	0.049697	0.85682	D	0.000000	T	0.44808	0.1311	M	0.67953	2.075	0.80722	D	1	B;P	0.42961	0.02;0.795	B;B	0.36922	0.013;0.236	T	0.54057	-0.8350	10	0.62326	D	0.03	-12.6367	19.1448	0.93461	0.0:0.0:1.0:0.0	.	96;96	B4E0B8;Q8TDN6	.;BRX1_HUMAN	H	96	ENSP00000338862:R96H	ENSP00000338862:R96H	R	+	2	0	BRIX1	34955717	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.218000	0.89768	2.578000	0.87016	0.637000	0.83480	CGT	BRIX1	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix		0.264	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIX1	HGNC	protein_coding	OTTHUMT00000366826.2	G	NM_018321		34919960	+1	no_errors	ENST00000336767	ensembl	human	known	70_37	missense	SNP	1.000	A
CARS	833	genome.wustl.edu	37	11	3038339	3038339	+	Silent	SNP	C	C	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr11:3038339C>T	ENST00000397111.5	-	15	1910	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	CARS_ENST00000397114.3_Silent_p.L545L|CARS_ENST00000380525.4_Silent_p.L638L|CARS_ENST00000401769.3_Silent_p.L568L|CARS_ENST00000278224.9_Silent_p.L555L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	555					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GGCTTACCTTCAGCATATGGG	0.617			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													71.0	55.0	60.0					11																	3038339		2202	4298	6500	SO:0001819	synonymous_variant	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1665G>A	11.37:g.3038339C>T			Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.L638	ENST00000397111.5	37	c.1914	CCDS7742.1	11																																																																																			CARS	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase		0.617	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	C	NM_001751		3038339	-1	no_errors	ENST00000380525	ensembl	human	known	70_37	silent	SNP	0.973	T
CCDC40	55036	genome.wustl.edu	37	17	78064063	78064064	+	Intron	INS	-	-	A	rs7207166	byFrequency	TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr17:78064063_78064064insA	ENST00000397545.4	+	17	2859				CCDC40_ENST00000374877.3_Frame_Shift_Ins_p.G987fs|CCDC40_ENST00000573903.1_Intron	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40						axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			gggacgcgcgcgggcacgtgca	0.683																																																	0																																										SO:0001627	intron_variant	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2832+380->A	17.37:g.78064063_78064064insA			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Frame_Shift_Ins	INS	pfam_E3_ubiquit_lig_BRE1	p.G986fs	ENST00000397545.4	37	c.2958_2959	CCDS42395.1	17																																																																																			CCDC40	-	NULL		0.683	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	-	XM_371082		78064064	+1	no_errors	ENST00000374877	ensembl	human	known	70_37	frame_shift_ins	INS	0.005:0.005	A
CCDC40	55036	genome.wustl.edu	37	17	78064065	78064066	+	Intron	INS	-	-	CAC			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr17:78064065_78064066insCAC	ENST00000397545.4	+	17	2859				CCDC40_ENST00000374877.3_In_Frame_Ins_p.987_988GH>GTH|CCDC40_ENST00000573903.1_Intron	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40						axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			gacgcgcgcgggcacgtgcacg	0.688																																																	0																																										SO:0001627	intron_variant	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2832+382->CAC	17.37:g.78064065_78064066insCAC			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	In_Frame_Ins	INS	pfam_E3_ubiquit_lig_BRE1	p.988in_frame_insT	ENST00000397545.4	37	c.2960_2961	CCDS42395.1	17																																																																																			CCDC40	-	NULL		0.688	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	-	XM_371082		78064066	+1	no_errors	ENST00000374877	ensembl	human	known	70_37	in_frame_ins	INS	0.007:0.009	CAC
CMAHP	8418	genome.wustl.edu	37	6	25109773	25109773	+	RNA	SNP	C	C	A			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr6:25109773C>A	ENST00000377989.4	-	0	1209							Q9Y471	CMAH_HUMAN	cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene						CMP-N-acetylneuraminate metabolic process (GO:0046381)	cytoplasm (GO:0005737)	2 iron, 2 sulfur cluster binding (GO:0051537)|oxidoreductase activity (GO:0016491)			NS(1)	1						GGATGAACACCGTCCATCAAG	0.348																																																	0																																												8418					6p23-p22	2011-04-28	2011-04-28	2011-04-28	ENSG00000168405	ENSG00000168405			2098	pseudogene	pseudogene		603209	"""cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene)"""	CMAH		7608218, 9624188	Standard	NR_002174		Approved		uc003ner.4	Q9Y471	OTTHUMG00000016099		6.37:g.25109773C>A			O95250|Q5TD41|Q5TD42|Q5TD43|Q5TD44|Q68DC3|Q9UEE7	Missense_Mutation	SNP	NULL	p.G160C	ENST00000377989.4	37	c.478		6	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788034	0.90367	.	.	ENSG00000168405	ENST00000377993;ENST00000436589;ENST00000377989;ENST00000424282;ENST00000399346;ENST00000458373	.	.	.	5.64	5.64	0.86602	.	0.101926	0.64402	D	0.000002	T	0.81039	0.4740	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.83025	-0.0165	8	0.87932	D	0	-20.3197	18.4752	0.90790	0.0:1.0:0.0:0.0	.	160;160	B7Z8E8;C1K3L2	.;.	C	160	.	ENSP00000367228:G160C	G	-	1	0	CMAHP	25217752	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	6.050000	0.71063	2.644000	0.89710	0.609000	0.83330	GGT	CMAHP	-	NULL		0.348	CMAHP-002	KNOWN	basic	processed_transcript	CMAHP	HGNC	pseudogene	OTTHUMT00000043292.2	C	NR_002174		25109773	-1	no_errors	ENST00000377989	ensembl	human	known	70_37	missense	SNP	1.000	A
CMBL	134147	genome.wustl.edu	37	5	10286563	10286563	+	Silent	SNP	G	G	A			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr5:10286563G>A	ENST00000296658.3	-	4	789	c.369C>T	c.(367-369)gcC>gcT	p.A123A	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	123						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CAATTTTCTGGGCATGACACT	0.423																																																	0													84.0	74.0	78.0					5																	10286563		2203	4300	6503	SO:0001819	synonymous_variant	134147				CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.369C>T	5.37:g.10286563G>A			D3DTC7|Q8TED6	Silent	SNP	pfam_Dienelactn_hydro,pfam_PLipase/COase/thioEstase	p.A123	ENST00000296658.3	37	c.369	CCDS3878.1	5																																																																																			CMBL	-	pfam_Dienelactn_hydro,pfam_PLipase/COase/thioEstase		0.423	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMBL	HGNC	protein_coding	OTTHUMT00000253689.1	G	NM_138809		10286563	-1	no_errors	ENST00000296658	ensembl	human	known	70_37	silent	SNP	0.935	A
CNTN2	6900	genome.wustl.edu	37	1	205033553	205033553	+	Silent	SNP	C	C	G			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr1:205033553C>G	ENST00000331830.4	+	11	1628	c.1344C>G	c.(1342-1344)gcC>gcG	p.A448A	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	448	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAAAGGCCGTGGTGCTCT	0.637																																					Melanoma(183;2548 2817 37099 41192)												0													87.0	102.0	97.0					1																	205033553		2203	4300	6503	SO:0001819	synonymous_variant	6900			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1344C>G	1.37:g.205033553C>G			P78432|Q5T054	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A448	ENST00000331830.4	37	c.1344	CCDS1449.1	1																																																																																			CNTN2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	C	NM_005076		205033553	+1	no_errors	ENST00000331830	ensembl	human	known	70_37	silent	SNP	0.008	G
DIAPH1	1729	genome.wustl.edu	37	5	140953564	140953566	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr5:140953564_140953566delGGA	ENST00000398557.4	-	16	1991_1993	c.1851_1853delTCC	c.(1849-1854)cctcca>cca	p.617_618PP>P	DIAPH1_ENST00000389057.5_In_Frame_Del_p.608_609PP>P|DIAPH1_ENST00000518047.1_In_Frame_Del_p.608_609PP>P|DIAPH1_ENST00000520569.1_In_Frame_Del_p.563_564PP>P|DIAPH1_ENST00000253811.6_In_Frame_Del_p.617_618PP>P|DIAPH1_ENST00000398566.3_In_Frame_Del_p.608_609PP>P|DIAPH1_ENST00000389054.3_In_Frame_Del_p.617_618PP>P|DIAPH1_ENST00000398562.2_In_Frame_Del_p.608_609PP>P	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	617	FH1.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAaggaggtggaggaggaggag	0.576																																																	0																																										SO:0001651	inframe_deletion	1729			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1851_1853delTCC	5.37:g.140953573_140953575delGGA	ENSP00000381565:p.Pro620del		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	In_Frame_Del	DEL	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.P620in_frame_del	ENST00000398557.4	37	c.1853_1851	CCDS43374.1	5																																																																																			DIAPH1	-	pfam_Formin_homology_1		0.576	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	HGNC	protein_coding		GGA	NM_005219		140953566	-1	no_errors	ENST00000253811	ensembl	human	known	70_37	in_frame_del	DEL	0.010:0.008:0.007	-
EME2	197342	genome.wustl.edu	37	16	1825175	1825175	+	Intron	SNP	G	G	A	rs143812454		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr16:1825175G>A	ENST00000568449.1	+	4	590				EME2_ENST00000307394.7_Missense_Mutation_p.R204Q|MRPS34_ENST00000177742.3_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)	p.R204Q(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						TGGCTGGGACGGGGGTTCAGG	0.677								Direct reversal of damage;Homologous recombination																																									1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						G	GLN/ARG	1,4391	2.1+/-5.4	0,1,2195	44.0	49.0	47.0		611	-2.0	0.0	16	dbSNP_134	47	2,8592	1.2+/-3.3	0,2,4295	yes	missense	EME2	NM_001010865.1	43	0,3,6490	AA,AG,GG		0.0233,0.0228,0.0231		204/445	1825175	3,12983	2196	4297	6493	SO:0001627	intron_variant	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.569+42G>A	16.37:g.1825175G>A			Q8TEP2|Q96RY3	Missense_Mutation	SNP	pfam_ERCC4_domain,smart_ERCC4_domain	p.R204Q	ENST00000568449.1	37	c.611	CCDS58404.1	16	.	.	.	.	.	.	.	.	.	.	G	4.871	0.161931	0.09287	2.28E-4	2.33E-4	ENSG00000197774	ENST00000307394	.	.	.	3.87	-2.03	0.07365	.	.	.	.	.	T	0.15825	0.0381	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25152	-1.0140	5	0.19147	T	0.46	.	1.6251	0.02721	0.1212:0.1673:0.3712:0.3403	.	.	.	.	Q	204	.	ENSP00000303779:R204Q	R	+	2	0	EME2	1765176	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.586000	0.23894	-0.272000	0.09259	-0.424000	0.05967	CGG	EME2	-	pfam_ERCC4_domain,smart_ERCC4_domain		0.677	EME2-001	NOVEL	basic|CCDS	protein_coding	EME2	HGNC	protein_coding	OTTHUMT00000433185.2	G	NM_001010865		1825175	+1	no_errors	ENST00000307394	ensembl	human	known	70_37	missense	SNP	0.000	A
MT-CO1	4512	genome.wustl.edu	37	M	5610	5610	+	5'Flank	SNP	G	G	A			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chrM:5610G>A	ENST00000361624.2	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TK_ENST00000387421.1_RNA|MT-TQ_ENST00000387372.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AACCCCACTCTGCATCAACTG	0.403																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.5610G>A	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			J01415.8	-	-		0.403	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000210127	Clone_based_ensembl_gene	protein_coding		G	YP_003024028		5610	-1	no_errors	ENST00000387392	ensembl	human	novel	70_37	rna	SNP	NULL	A
TBC1D22A	25771	genome.wustl.edu	37	22	47243816	47243819	+	Intron	DEL	GTGT	GTGT	-	rs74660276|rs373665005|rs201303378|rs58012028		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	GTGT	GTGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr22:47243816_47243819delGTGT	ENST00000337137.4	+	5	803				TBC1D22A_ENST00000406733.1_Intron|TBC1D22A_ENST00000380995.1_Intron|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Intron|Z97351.1_ENST00000408745.1_RNA	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A								protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		ACCCTAgtgggtgtgtgtgtgtgt	0.471																																																	0																																										SO:0001627	intron_variant	0			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.638-30730GTGT>-	22.37:g.47243824_47243827delGTGT			B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	RNA	DEL	-	NULL	ENST00000337137.4	37	NULL	CCDS14078.1	22																																																																																			Z97351.1	-	-		0.471	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221672	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000317600.3	GTGT	NM_014346		47243819	+1	no_errors	ENST00000408745	ensembl	human	novel	70_37	rna	DEL	0.000:0.000:0.001:0.000	-
ITPRIPL2	162073	genome.wustl.edu	37	16	19132370	19132370	+	3'UTR	DEL	T	T	-	rs75467685		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr16:19132370delT	ENST00000381440.3	+	0	7117				CTD-2349B8.1_ENST00000564808.2_Intron|RP11-626G11.3_ENST00000567236.1_RNA	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2							integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CATTCGTTAGTTTTTTTTTTT	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.*4979T>-	16.37:g.19132370delT				RNA	DEL	-	NULL	ENST00000381440.3	37	NULL	CCDS32395.1	16																																																																																			RP11-626G11.3	-	-		0.368	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261759	Clone_based_vega_gene	protein_coding	OTTHUMT00000435827.3	T	NM_001034841		19132370	-1	no_errors	ENST00000567236	ensembl	human	known	70_37	rna	DEL	0.985	-
ERICH6	131831	genome.wustl.edu	37	3	150421460	150421460	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr3:150421460C>G	ENST00000295910.6	-	1	278	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	RP11-103G8.2_ENST00000475393.1_RNA|FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGAGGTACTCTTCGCTGAAC	0.622																																																	0													234.0	184.0	201.0					3																	150421460		2203	4300	6503	SO:0001583	missense	131831																														ENST00000295910.6:c.226G>C	3.37:g.150421460C>G	ENSP00000295910:p.Glu76Gln			Missense_Mutation	SNP	NULL	p.E76Q	ENST00000295910.6	37	c.226	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475116	0.43942	.	.	ENSG00000163645	ENST00000295910;ENST00000313811	T	0.17213	2.29	3.31	3.31	0.37934	.	0.931890	0.08793	N	0.893000	T	0.22003	0.0530	L	0.29908	0.895	0.38959	D	0.958508	D	0.55385	0.971	P	0.52343	0.696	T	0.09684	-1.0663	10	0.66056	D	0.02	-2.5644	10.4127	0.44303	0.0:1.0:0.0:0.0	.	76	Q7L0X2	F194A_HUMAN	Q	76;34	ENSP00000295910:E76Q	ENSP00000295910:E76Q	E	-	1	0	FAM194A	151904150	0.001000	0.12720	0.003000	0.11579	0.038000	0.13279	1.269000	0.33074	2.160000	0.67779	0.561000	0.74099	GAG	FAM194A	-	NULL		0.622	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	C			150421460	-1	no_errors	ENST00000295910	ensembl	human	known	70_37	missense	SNP	0.003	G
PRR36	80164	genome.wustl.edu	37	19	7937597	7937597	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr19:7937597C>T	ENST00000539422.1	-	5	695	c.533G>A	c.(532-534)cGt>cAt	p.R178H	CTD-3193O13.9_ENST00000593356.1_5'UTR|CTD-3193O13.11_ENST00000597156.1_lincRNA	NM_001190467.1	NP_001177396.1																					CCGGGACCGACGGGCCATGGC	0.706																																																	0																																										SO:0001583	missense	80164																														ENST00000539422.1:c.533G>A	19.37:g.7937597C>T	ENSP00000438970:p.Arg178His			Missense_Mutation	SNP	NULL	p.R178H	ENST00000539422.1	37	c.533		19	.	.	.	.	.	.	.	.	.	.	c	11.28	1.592179	0.28357	.	.	ENSG00000183248	ENST00000539422	.	.	.	3.19	1.03	0.20045	.	.	.	.	.	T	0.37972	0.1023	N	0.19112	0.55	0.80722	D	1	.	.	.	.	.	.	T	0.19877	-1.0292	6	0.49607	T	0.09	.	4.6314	0.12504	0.0:0.6958:0.0:0.3042	.	.	.	.	H	178	.	ENSP00000438970:R178H	R	-	2	0	AC010336.1	7843597	0.164000	0.22935	0.772000	0.31596	0.756000	0.42949	0.594000	0.24014	0.645000	0.30675	0.298000	0.19748	CGT	FLJ22184	-	NULL		0.706	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Uniprot_genename	protein_coding		C			7937597	-1	no_errors	ENST00000539422	ensembl	human	known	70_37	missense	SNP	0.958	T
FCGBP	8857	genome.wustl.edu	37	19	40382747	40382747	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr19:40382747A>G	ENST00000221347.6	-	22	10146	c.10139T>C	c.(10138-10140)gTg>gCg	p.V3380A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3380	VWFD 8. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTTGTGGTCACCACCACGTC	0.687																																																	0													1.0	1.0	1.0					19																	40382747		474	1175	1649	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.10139T>C	19.37:g.40382747A>G	ENSP00000221347:p.Val3380Ala		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.V3380A	ENST00000221347.6	37	c.10139	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	A	18.52	3.642101	0.67244	.	.	ENSG00000090920	ENST00000221347	T	0.62232	0.04	2.63	2.63	0.31362	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.77678	0.4166	M	0.84326	2.69	0.25619	N	0.986419	D	0.76494	0.999	D	0.87578	0.998	T	0.64089	-0.6489	9	0.66056	D	0.02	.	8.3899	0.32522	1.0:0.0:0.0:0.0	.	3380	Q9Y6R7	FCGBP_HUMAN	A	3380	ENSP00000221347:V3380A	ENSP00000221347:V3380A	V	-	2	0	FCGBP	45074587	0.456000	0.25744	0.203000	0.23512	0.025000	0.11179	4.976000	0.63785	1.218000	0.43458	0.329000	0.21502	GTG	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D		0.687	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	A	NM_003890		40382747	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	missense	SNP	0.952	G
FLJ36000	284124	genome.wustl.edu	37	17	21910820	21910820	+	lincRNA	SNP	G	G	A			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr17:21910820G>A	ENST00000581223.2	+	0	1545					NR_027084.1																						atgcgcatgcgcaaggccctg	0.607																																																	0																																												284124																															17.37:g.21910820G>A				RNA	SNP	-	NULL	ENST00000581223.2	37	NULL		17																																																																																			RP11-744K17.9	-	-		0.607	RP11-744K17.9-001	KNOWN	basic	lincRNA	FLJ36000	Clone_based_vega_gene	lincRNA	OTTHUMT00000451067.1	G			21910820	+1	no_errors	ENST00000581223	ensembl	human	known	70_37	rna	SNP	0.016	A
HDX	139324	genome.wustl.edu	37	X	83724357	83724360	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chrX:83724357_83724360delTGTT	ENST00000297977.5	-	3	482_485	c.371_374delAACA	c.(370-375)aaacatfs	p.KH124fs	HDX_ENST00000506585.2_Frame_Shift_Del_p.KH66fs|HDX_ENST00000373177.2_Frame_Shift_Del_p.KH124fs	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	124						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGTGTCTGTATGTTTGTTTGTTCC	0.392																																					Pancreas(53;231 1169 36156 43751 51139)												0																																										SO:0001589	frameshift_variant	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.371_374delAACA	X.37:g.83724365_83724368delTGTT	ENSP00000297977:p.Lys124fs		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Frame_Shift_Del	DEL	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.K124fs	ENST00000297977.5	37	c.374_371	CCDS35342.1	X																																																																																			HDX	-	NULL		0.392	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	TGTT	NM_144657		83724360	-1	no_errors	ENST00000297977	ensembl	human	known	70_37	frame_shift_del	DEL	0.372:0.362:0.325:0.948	-
KCNK2	3776	genome.wustl.edu	37	1	215259781	215259781	+	Silent	SNP	G	G	A			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr1:215259781G>A	ENST00000444842.2	+	2	267	c.117G>A	c.(115-117)acG>acA	p.T39T	KCNK2_ENST00000391894.2_Silent_p.T24T|KCNK2_ENST00000391895.2_Silent_p.T35T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	39					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.T24T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CGTTTTCCACGAAACCCACAG	0.507																																																	1	Substitution - coding silent(1)	large_intestine(1)											73.0	70.0	71.0					1																	215259781		2203	4300	6503	SO:0001819	synonymous_variant	3776			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.117G>A	1.37:g.215259781G>A			A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.T39	ENST00000444842.2	37	c.117	CCDS41467.1	1																																																																																			KCNK2	-	NULL		0.507	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	G	NM_014217		215259781	+1	no_errors	ENST00000444842	ensembl	human	known	70_37	silent	SNP	0.984	A
KIF1A	547	genome.wustl.edu	37	2	241696841	241696843	+	Intron	DEL	TCC	TCC	-	rs537608637|rs10594016|rs533559120		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr2:241696841_241696843delTCC	ENST00000320389.7	-	25	2714				KIF1A_ENST00000498729.2_In_Frame_Del_p.E917del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ctcctcctcatcctcctcctcct	0.675																																																	0																																										SO:0001627	intron_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2555+933GGA>-	2.37:g.241696850_241696852delTCC			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	In_Frame_Del	DEL	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E917in_frame_del	ENST00000320389.7	37	c.2753_2751	CCDS46561.1	2																																																																																			KIF1A	-	NULL		0.675	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	TCC	NM_138483		241696843	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
KRTAP5-9	3846	genome.wustl.edu	37	11	71259966	71259966	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr11:71259966G>T	ENST00000528743.2	+	1	501	c.263G>T	c.(262-264)tGc>tTc	p.C88F		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	88	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCCTGCTGTTGCTCTTCAGGC	0.627																																																	0													106.0	120.0	115.0					11																	71259966		2200	4293	6493	SO:0001583	missense	3846			AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.263G>T	11.37:g.71259966G>T	ENSP00000431443:p.Cys88Phe		Q14564|Q3MIP8	Missense_Mutation	SNP	NULL	p.C88F	ENST00000528743.2	37	c.263	CCDS53677.1	11	.	.	.	.	.	.	.	.	.	.	N	2.101	-0.406095	0.04832	.	.	ENSG00000254997	ENST00000528743	T	0.03580	3.88	1.57	0.446	0.16602	.	.	.	.	.	T	0.10337	0.0253	M	0.92169	3.28	0.25211	N	0.989978	B	0.26775	0.159	B	0.33042	0.157	T	0.12091	-1.0561	9	0.52906	T	0.07	.	7.2173	0.25967	0.0:0.2817:0.7183:0.0	.	88	P26371	KRA59_HUMAN	F	88	ENSP00000431443:C88F	ENSP00000431443:C88F	C	+	2	0	KRTAP5-9	70937614	0.358000	0.24947	0.229000	0.23960	0.155000	0.21991	0.764000	0.26532	0.158000	0.19367	0.442000	0.29010	TGC	KRTAP5-9	-	NULL		0.627	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-9	HGNC	protein_coding	OTTHUMT00000393901.2	G			71259966	+1	no_errors	ENST00000528743	ensembl	human	known	70_37	missense	SNP	0.862	T
MT-ND5	4540	genome.wustl.edu	37	M	12962	12962	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chrM:12962G>T	ENST00000361567.2	+	1	626	c.626G>T	c.(625-627)aGc>aTc	p.S209I	MT-TG_ENST00000387429.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	209					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CGCTAATCCAAGCCTCACCCC	0.537																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.626G>T	M.37:g.12962G>T	ENSP00000354813:p.Ser209Ile		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.S209I	ENST00000361567.2	37	c.626		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5		0.537	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		12962	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	T
MUC20	200958	genome.wustl.edu	37	3	195453332	195453332	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr3:195453332G>A	ENST00000447234.2	+	2	1984	c.1858G>A	c.(1858-1860)Ggg>Agg	p.G620R	MUC20_ENST00000320736.6_Missense_Mutation_p.G449R|MUC20_ENST00000445522.2_Missense_Mutation_p.G585R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	620	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGCAGCCGAGGGACGAACAG	0.612																																																	0																																										SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1858G>A	3.37:g.195453332G>A	ENSP00000414350:p.Gly620Arg		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.G620R	ENST00000447234.2	37	c.1858		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.15|11.15	1.553505|1.553505	0.27739|0.27739	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522|ENST00000423938	T;T;T;T|T	0.13901|0.21932	2.97;2.98;3.15;2.55|1.98	4.83|4.83	2.02|2.02	0.26589|0.26589	.|.	1.113110|.	0.06939|.	N|.	0.812407|.	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	P|.	0.35844|.	0.524|.	B|.	0.38500|.	0.275|.	T|T	0.37407|0.37407	-0.9707|-0.9707	10|7	0.17369|0.19147	T|T	0.5|0.46	1.6052|1.6052	6.2028|6.2028	0.20585|0.20585	0.3217:0.0:0.6783:0.0|0.3217:0.0:0.6783:0.0	.|.	449|.	E9PH32|.	.|.	R|K	431;620;449;620;585|31	ENSP00000414350:G620R;ENSP00000325431:G449R;ENSP00000396774:G620R;ENSP00000405629:G585R|ENSP00000397774:R31K	ENSP00000325431:G449R|ENSP00000397774:R31K	G|R	+|+	1|2	0|0	MUC20|MUC20	196939003|196939003	0.024000|0.024000	0.19004|0.19004	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	1.013000|1.013000	0.29937|0.29937	0.320000|0.320000	0.23234|0.23234	-0.140000|-0.140000	0.14226|0.14226	GGG|AGG	MUC20	-	NULL		0.612	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	G	NM_152673		195453332	+1	no_errors	ENST00000447234	ensembl	human	known	70_37	missense	SNP	0.004	A
MYH4	4622	genome.wustl.edu	37	17	10357006	10357006	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr17:10357006A>G	ENST00000255381.2	-	23	2998	c.2888T>C	c.(2887-2889)cTg>cCg	p.L963P	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	963					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGCCAGTGTCAGCTCAAGGTC	0.423																																																	0													284.0	266.0	272.0					17																	10357006		2203	4297	6500	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2888T>C	17.37:g.10357006A>G	ENSP00000255381:p.Leu963Pro			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L963P	ENST00000255381.2	37	c.2888	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	A	21.3	4.136102	0.77662	.	.	ENSG00000141048	ENST00000255381	D	0.90069	-2.61	5.81	5.81	0.92471	.	0.000000	0.29551	U	0.011825	D	0.95101	0.8413	H	0.94925	3.6	0.80722	D	1	D	0.56968	0.978	P	0.55391	0.775	D	0.96176	0.9127	10	0.72032	D	0.01	.	16.4563	0.84015	1.0:0.0:0.0:0.0	.	963	Q9Y623	MYH4_HUMAN	P	963	ENSP00000255381:L963P	ENSP00000255381:L963P	L	-	2	0	MYH4	10297731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.182000	0.94881	2.343000	0.79666	0.533000	0.62120	CTG	MYH4	-	NULL		0.423	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	A	NM_017533		10357006	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH9	4627	genome.wustl.edu	37	22	36685206	36685206	+	Silent	SNP	C	C	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr22:36685206C>T	ENST00000216181.5	-	32	4712	c.4482G>A	c.(4480-4482)gaG>gaA	p.E1494E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1494					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCCGCTCCAGCTCCGCCTTCT	0.652			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													82.0	63.0	69.0					22																	36685206		2203	4300	6503	SO:0001819	synonymous_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4482G>A	22.37:g.36685206C>T			A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1494	ENST00000216181.5	37	c.4482	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail,superfamily_Prefoldin		0.652	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36685206	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	silent	SNP	1.000	T
NME6	10201	genome.wustl.edu	37	3	48337645	48337645	+	Missense_Mutation	SNP	C	C	T	rs144390600		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr3:48337645C>T	ENST00000452211.1	-	5	434	c.197G>A	c.(196-198)cGt>cAt	p.R66H	NME6_ENST00000442597.1_Missense_Mutation_p.R66H|NME6_ENST00000426723.1_Intron|NME6_ENST00000415053.1_Missense_Mutation_p.R66H|NME6_ENST00000451657.1_Intron|ZNF589_ENST00000412564.1_Intron|NME6_ENST00000426689.2_Missense_Mutation_p.R66H|NME6_ENST00000421967.1_Missense_Mutation_p.R74H|NME6_ENST00000435684.1_Intron|NME6_ENST00000444069.1_Intron|NME6_ENST00000450160.1_Intron|NME6_ENST00000447314.1_Missense_Mutation_p.R21H|NME6_ENST00000415644.1_Intron			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	66					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		ATAGAAAAAACGCCCTGCAAA	0.448																																																	0								C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	56.0	61.0	59.0		221	4.0	1.0	3	dbSNP_134	59	0,8600		0,0,4300	no	missense	NME6	NM_005793.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	74/195	48337645	2,13004	2203	4300	6503	SO:0001583	missense	10201			AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"""non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"""			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.197G>A	3.37:g.48337645C>T	ENSP00000392352:p.Arg66His		B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.R74H	ENST00000452211.1	37	c.221		3	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600144	0.87055	4.54E-4	0.0	ENSG00000172113	ENST00000421967;ENST00000426689;ENST00000452211;ENST00000415053;ENST00000442597;ENST00000447314;ENST00000425930;ENST00000456495	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	4.88	4.01	0.46588	.	0.055129	0.85682	D	0.000000	T	0.77164	0.4090	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.75484	0.986;0.9	T	0.82333	-0.0509	10	0.87932	D	0	-3.8345	11.231	0.48912	0.0:0.9108:0.0:0.0892	.	66;66	O75414;C9J9V6	NDK6_HUMAN;.	H	74;66;66;66;66;21;66;66	ENSP00000416658:R74H;ENSP00000440286:R66H;ENSP00000392352:R66H;ENSP00000399582:R66H;ENSP00000406642:R66H;ENSP00000414842:R21H;ENSP00000411116:R66H;ENSP00000392715:R66H	ENSP00000399582:R66H	R	-	2	0	NME6	48312649	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.026000	0.64103	1.438000	0.47492	0.655000	0.94253	CGT	NME6	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase		0.448	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	NME6	HGNC	protein_coding	OTTHUMT00000346107.1	C	NM_005793		48337645	-1	no_errors	ENST00000421967	ensembl	human	known	70_37	missense	SNP	0.996	T
NOP56	10528	genome.wustl.edu	37	20	2635849	2635849	+	Intron	SNP	G	G	A			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr20:2635849G>A	ENST00000329276.5	+	6	1085				SNORA51_ENST00000606420.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD57_ENST00000448188.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein						cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ACATAGAATTGAGGAAGATTT	0.493																																																	0													105.0	102.0	103.0					20																	2635849		876	1991	2867	SO:0001627	intron_variant	10528			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.570-122G>A	20.37:g.2635849G>A			Q2M3T6|Q9NQ05	RNA	SNP	-	NULL	ENST00000329276.5	37	NULL	CCDS13030.1	20																																																																																			NOP56	-	-		0.493	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	HGNC	protein_coding	OTTHUMT00000077631.2	G	NM_006392		2635849	+1	no_errors	ENST00000484998	ensembl	human	known	70_37	rna	SNP	0.006	A
PDK3	5165	genome.wustl.edu	37	X	24517162	24517162	+	Intron	DEL	T	T	-	rs397895289|rs11326170		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chrX:24517162delT	ENST00000379162.4	+	3	555				PDK3_ENST00000441463.2_Intron|PDK3_ENST00000493226.1_3'UTR	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3						cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CAACATTGAGTTTTTTTTTTT	0.289																																																	0																																										SO:0001627	intron_variant	5165			L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.320+145T>-	X.37:g.24517162delT			B4DXG6	RNA	DEL	-	NULL	ENST00000379162.4	37	NULL	CCDS14212.1	X																																																																																			PDK3	-	-		0.289	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK3	HGNC	protein_coding	OTTHUMT00000056097.1	T	NM_005391		24517162	+1	no_errors	ENST00000493226	ensembl	human	known	70_37	rna	DEL	0.012	-
PLCB4	5332	genome.wustl.edu	37	20	9460165	9460165	+	3'UTR	SNP	C	C	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr20:9460165C>T	ENST00000378493.1	+	0	4072				PLCB4_ENST00000378473.3_3'UTR|PLCB4_ENST00000278655.4_3'UTR|PLCB4_ENST00000334005.3_3'UTR|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4						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						TCAGTAAGTGCCATGTCTCTA	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	5332				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.*529C>T	20.37:g.9460165C>T			B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	RNA	SNP	-	NULL	ENST00000378493.1	37	NULL	CCDS13105.1	20																																																																																			PLCB4	-	-		0.353	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	C			9460165	+1	no_errors	ENST00000464199	ensembl	human	known	70_37	rna	SNP	1.000	T
PLCH1	23007	genome.wustl.edu	37	3	155093577	155093578	+	Splice_Site	INS	-	-	TC	rs386667323|rs58324397|rs142008742|rs77855218	byFrequency	TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr3:155093577_155093578insTC	ENST00000494598.1	-	22	3315_3316	c.2939_2940insGA	c.(2938-2940)gac>gaGAc	p.D980fs				Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	0					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAAAGCTAGAGTCTGTAAAAGA	0.371																																																	0																																										SO:0001630	splice_region_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000494598.1:c.2939-1->GA	3.37:g.155093578_155093579dupTC			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Frame_Shift_Ins	INS	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D980fs	ENST00000494598.1	37	c.2940_2939		3																																																																																			PLCH1	-	NULL		0.371	PLCH1-001	KNOWN	basic	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351122.2	-	NM_014996	Frame_Shift_Ins	155093578	-1	no_errors	ENST00000494598	ensembl	human	known	70_37	frame_shift_ins	INS	0.001:0.001	TC
PPP1R1C	151242	genome.wustl.edu	37	2	182928496	182928496	+	Silent	SNP	G	G	C			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr2:182928496G>C	ENST00000409137.3	+	4	462	c.219G>C	c.(217-219)gtG>gtC	p.V73V	PPP1R1C_ENST00000280295.3_Silent_p.V80V|PPP1R1C_ENST00000475249.1_3'UTR|PPP1R1C_ENST00000452904.1_Silent_p.V73V|PPP1R1C_ENST00000409702.1_Silent_p.V73V	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	73					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			AGCAGAGTGTGTACACACCAC	0.453																																																	0													181.0	175.0	177.0					2																	182928496		1928	4137	6065	SO:0001819	synonymous_variant	151242			AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.219G>C	2.37:g.182928496G>C			Q5HYJ5|Q8TD54	Silent	SNP	pfam_PPI_1DARPP-32	p.V73	ENST00000409137.3	37	c.219	CCDS46468.1	2																																																																																			PPP1R1C	-	pfam_PPI_1DARPP-32		0.453	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1C	HGNC	protein_coding	OTTHUMT00000334874.1	G	NM_001080545		182928496	+1	no_errors	ENST00000409137	ensembl	human	known	70_37	silent	SNP	1.000	C
RIPK1	8737	genome.wustl.edu	37	6	3078028	3078028	+	Silent	SNP	C	C	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr6:3078028C>T	ENST00000259808.4	+	3	478	c.180C>T	c.(178-180)ctC>ctT	p.L60L	RIPK1_ENST00000380409.2_Silent_p.L60L|RIPK1_ENST00000541791.1_Silent_p.L60L|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACGAGGCCCTCTTGGAGGAGG	0.587																																																	0													77.0	66.0	70.0					6																	3078028		2203	4300	6503	SO:0001819	synonymous_variant	8737			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.180C>T	6.37:g.3078028C>T			A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L60	ENST00000259808.4	37	c.180	CCDS4482.1	6																																																																																			RIPK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.587	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2	C	NM_003804		3078028	+1	no_errors	ENST00000259808	ensembl	human	known	70_37	silent	SNP	0.991	T
SLC5A11	115584	genome.wustl.edu	37	16	24921753	24921753	+	Missense_Mutation	SNP	G	G	A	rs572775623		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr16:24921753G>A	ENST00000347898.3	+	15	2399	c.1777G>A	c.(1777-1779)Gtc>Atc	p.V593I	SLC5A11_ENST00000539472.1_Missense_Mutation_p.V529I|SLC5A11_ENST00000569071.1_Missense_Mutation_p.V437I|SLC5A11_ENST00000449109.2_Missense_Mutation_p.V437I|SLC5A11_ENST00000424767.2_Missense_Mutation_p.V558I|SLC5A11_ENST00000545376.1_Missense_Mutation_p.V523I|SLC5A11_ENST00000567758.1_Missense_Mutation_p.V558I|SLC5A11_ENST00000565769.1_Missense_Mutation_p.V529I|SLC5A11_ENST00000568579.1_Missense_Mutation_p.V523I	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.V593I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CAGCAGCAGCGTCCAGTTCGA	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16146	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											98.0	76.0	83.0					16																	24921753		2197	4300	6497	SO:0001583	missense	115584			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1777G>A	16.37:g.24921753G>A	ENSP00000289932:p.Val593Ile			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V593I	ENST00000347898.3	37	c.1777	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.120544	0.01785	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	0.158	0.158	0.14942	.	2.550580	0.00941	N	0.002832	T	0.30448	0.0765	N	0.02011	-0.69	0.09310	N	1	B;B;B;P	0.39404	0.0;0.001;0.0;0.672	B;B;B;B	0.29524	0.0;0.001;0.0;0.103	T	0.28427	-1.0044	9	0.33141	T	0.24	.	.	.	.	.	523;558;593;437	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	I	593;437;558;523;529	ENSP00000289932:V593I;ENSP00000389606:V437I;ENSP00000416782:V558I;ENSP00000441384:V523I;ENSP00000441018:V529I	ENSP00000289932:V593I	V	+	1	0	SLC5A11	24829254	0.000000	0.05858	0.012000	0.15200	0.251000	0.25915	-0.428000	0.06991	0.202000	0.20498	0.205000	0.17691	GTC	SLC5A11	-	NULL		0.532	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	G	NM_052944		24921753	+1	no_errors	ENST00000347898	ensembl	human	known	70_37	missense	SNP	0.011	A
SNORD3B-1	26851	genome.wustl.edu	37	17	18967372	18967372	+	lincRNA	SNP	G	G	T	rs376458584	byFrequency	TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr17:18967372G>T	ENST00000363359.1	+	0	432				SNORD3B-2_ENST00000364880.1_lincRNA					small nucleolar RNA, C/D box 3B-1																		ctcttcctcggggttttcggt	0.502													-|||	4162	0.83107	0.9788	0.6758	5008	,	,		7839	0.997		0.5696	False		,,,				2504	0.8395																0													10.0	21.0	19.0					17																	18967372		390	1913	2303			780852			AF020534, AF020533, AF020532		17p11.2	2013-09-05	2006-11-28	2006-11-28	ENSG00000200229	ENSG00000265185			10168	non-coding RNA	RNA, small nucleolar			"""RNA, U3A1 small nucleolar, RNA, U3A1 small nucleolar"""	RNU3A1		9365252	Standard	NR_003271		Approved	U3a, U3b1, U3b2					17.37:g.18967372G>T				RNA	SNP	-	NULL	ENST00000363359.1	37	NULL		17																																																																																			SNORD3B-2	-	-		0.502	SNORD3B-1-201	KNOWN	basic	snoRNA	SNORD3B-2	HGNC	lincRNA		G	NR_003271		18967372	-1	no_errors	ENST00000364880	ensembl	human	known	70_37	rna	SNP	0.077	T
STARD6	147323	genome.wustl.edu	37	18	51851221	51851221	+	Silent	SNP	C	C	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr18:51851221C>T	ENST00000581310.1	-	9	877	c.504G>A	c.(502-504)gtG>gtA	p.V168V	STARD6_ENST00000580990.2_Silent_p.V44V|STARD6_ENST00000307844.3_Silent_p.V168V			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	168	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				lipid transport (GO:0006869)		lipid binding (GO:0008289)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGACAAACATCACTAGTTTGG	0.333																																																	0													112.0	109.0	110.0					18																	51851221		2201	4300	6501	SO:0001819	synonymous_variant	147323			AF480305	CCDS11955.1	18q21.2	2011-09-12	2007-08-16		ENSG00000174448	ENSG00000174448		"""StAR-related lipid transfer (START) domain containing"""	18066	protein-coding gene	gene with protein product		607051	"""START domain containing 6"""			12011452	Standard	NM_139171		Approved		uc010xdt.2	P59095	OTTHUMG00000132702	ENST00000581310.1:c.504G>A	18.37:g.51851221C>T				Silent	SNP	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	p.V168	ENST00000581310.1	37	c.504	CCDS11955.1	18																																																																																			STARD6	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd		0.333	STARD6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	STARD6	HGNC	protein_coding	OTTHUMT00000256000.3	C	NM_139171		51851221	-1	no_errors	ENST00000307844	ensembl	human	known	70_37	silent	SNP	1.000	T
STAT5B	6777	genome.wustl.edu	37	17	40362483	40362483	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr17:40362483C>A	ENST00000293328.3	-	14	1881	c.1713G>T	c.(1711-1713)tgG>tgT	p.W571C		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	571					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CAAACCATTGCCAGAAAGTGT	0.393																																																	0													120.0	115.0	116.0					17																	40362483		2203	4300	6503	SO:0001583	missense	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1713G>T	17.37:g.40362483C>A	ENSP00000293328:p.Trp571Cys		Q8WWS8	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.W571C	ENST00000293328.3	37	c.1713	CCDS11423.1	17	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829810	0.91036	.	.	ENSG00000173757	ENST00000293328	D	0.98602	-5.02	5.53	5.53	0.82687	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.99061	0.9678	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99690	1.1001	10	0.87932	D	0	-9.7872	19.6556	0.95837	0.0:1.0:0.0:0.0	.	571	P51692	STA5B_HUMAN	C	571	ENSP00000293328:W571C	ENSP00000293328:W571C	W	-	3	0	STAT5B	37616009	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.563000	0.82314	2.882000	0.98803	0.655000	0.94253	TGG	STAT5B	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.393	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	C	NM_012448		40362483	-1	no_errors	ENST00000293328	ensembl	human	known	70_37	missense	SNP	1.000	A
SV2C	22987	genome.wustl.edu	37	5	75580985	75580985	+	Splice_Site	SNP	A	A	G			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr5:75580985A>G	ENST00000502798.2	+	5	1355		c.e5-1		SV2C_ENST00000322285.7_Splice_Site|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C						neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CTCCTTTTCCAGGGTGGAGCT	0.572																																																	0													216.0	219.0	218.0					5																	75580985		2105	4233	6338	SO:0001630	splice_region_variant	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.914-1A>G	5.37:g.75580985A>G			Q496K1|Q9UPU8	Splice_Site	SNP	-	e4-2	ENST00000502798.2	37	c.914-2	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354992	0.41700	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2537	0.66038	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SV2C	75616741	1.000000	0.71417	0.992000	0.48379	0.251000	0.25915	9.287000	0.95975	1.777000	0.52277	0.254000	0.18369	.	SV2C	-	-		0.572	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	A		Intron	75580985	+1	no_errors	ENST00000502798	ensembl	human	known	70_37	splice_site	SNP	1.000	G
SYNDIG1L	646658	genome.wustl.edu	37	14	74876248	74876248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr14:74876248C>T	ENST00000554823.1	-	1	261	c.200G>A	c.(199-201)tGg>tAg	p.W67*	SYNDIG1L_ENST00000331628.3_Nonsense_Mutation_p.W67*			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	67					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GGGCCGGTACCAGGCCTCCAC	0.672																																																	0													22.0	25.0	24.0					14																	74876248		1884	4098	5982	SO:0001587	stop_gained	646658				CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.200G>A	14.37:g.74876248C>T	ENSP00000450439:p.Trp67*			Nonsense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.W67*	ENST00000554823.1	37	c.200	CCDS41970.1	14	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337505	0.81911	.	.	ENSG00000183379	ENST00000331628;ENST00000554823;ENST00000554953	.	.	.	4.44	3.47	0.39725	.	0.144281	0.45867	D	0.000336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-3.7798	9.398	0.38415	0.3333:0.6667:0.0:0.0	.	.	.	.	X	67	.	ENSP00000331474:W67X	W	-	2	0	SYNDIG1L	73946001	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.017000	0.64047	2.298000	0.77334	0.467000	0.42956	TGG	SYNDIG1L	-	NULL		0.672	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYNDIG1L	HGNC	protein_coding	OTTHUMT00000412341.1	C	XM_938515		74876248	-1	no_errors	ENST00000331628	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TMEM254	80195	genome.wustl.edu	37	10	81841429	81841432	+	Intron	DEL	AAAG	AAAG	-	rs370724942|rs143538725	byFrequency	TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	AAAG	AAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr10:81841429_81841432delAAAG	ENST00000372281.3	+	2	117				TMEM254-AS1_ENST00000412298.1_RNA|TMEM254_ENST00000372277.3_Intron|TMEM254-AS1_ENST00000432070.2_RNA|TMEM254-AS1_ENST00000448729.2_RNA|TMEM254_ENST00000372275.1_Intron|TMEM254_ENST00000372274.1_Intron|TMEM254_ENST00000467529.1_Intron	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254							integral component of membrane (GO:0016021)											gtcaaaaaaaaaagaaagaaagaa	0.456														121	0.0241613	0.0008	0.0216	5008	,	,		19163	0.002		0.0517	False		,,,				2504	0.0521																0																																										SO:0001627	intron_variant	80195			BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 57"""	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.88-165AAAG>-	10.37:g.81841437_81841440delAAAG			D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	RNA	DEL	-	NULL	ENST00000372281.3	37	NULL	CCDS7363.1	10																																																																																			TMEM254	-	-		0.456	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM254	HGNC	protein_coding	OTTHUMT00000049030.1	AAAG	NM_025125		81841432	+1	no_errors	ENST00000463029	ensembl	human	known	70_37	rna	DEL	0.019:0.020:0.019:0.021	-
TMEM8A	58986	genome.wustl.edu	37	16	422230	422230	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr16:422230C>A	ENST00000431232.2	-	13	2233	c.2073G>T	c.(2071-2073)tgG>tgT	p.W691C	MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000429738.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.W498C|MRPL28_ENST00000389675.2_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	691					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GGTAGAAGGCCCAGCGCTGCC	0.627																																																	0													45.0	45.0	45.0					16																	422230		2195	4299	6494	SO:0001583	missense	58986			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2073G>T	16.37:g.422230C>A	ENSP00000401338:p.Trp691Cys		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	pfam_DUF3522,pfscan_EG-like_dom	p.W691C	ENST00000431232.2	37	c.2073	CCDS10407.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.597271|4.597271	0.87055|0.87055	.|.	.|.	ENSG00000129925|ENSG00000129925	ENST00000424078|ENST00000431232;ENST00000250930;ENST00000382942	.|T;T	.|0.48836	.|0.8;0.8	4.18|4.18	4.18|4.18	0.49190|0.49190	.|.	.|0.000000	.|0.56097	.|D	.|0.000032	T|T	0.69611|0.69611	0.3130|0.3130	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.75786|0.75786	-0.3195|-0.3195	5|10	.|0.87932	.|D	.|0	-12.1016|-12.1016	16.6918|16.6918	0.85323|0.85323	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|691	.|Q9HCN3	.|TMM8A_HUMAN	V|C	159|691;498;179	.|ENSP00000401338:W691C;ENSP00000250930:W498C	.|ENSP00000250930:W498C	G|W	-|-	2|3	0|0	TMEM8A|TMEM8A	362231|362231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.505000|7.505000	0.81655|0.81655	2.172000|2.172000	0.68678|0.68678	0.455000|0.455000	0.32223|0.32223	GGG|TGG	TMEM8A	-	pfam_DUF3522		0.627	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMEM8A	HGNC	protein_coding	OTTHUMT00000109257.2	C	NM_021259		422230	-1	no_errors	ENST00000431232	ensembl	human	known	70_37	missense	SNP	1.000	A
TRAF3	7187	genome.wustl.edu	37	14	103369593	103369593	+	Splice_Site	SNP	G	G	A	rs148461790		TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr14:103369593G>A	ENST00000560371.1	+	10	1179	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	TRAF3_ENST00000347662.4_Splice_Site_p.R296Q|TRAF3_ENST00000539721.1_Splice_Site_p.R238Q|TRAF3_ENST00000351691.5_Splice_Site_p.R296Q|TRAF3_ENST00000392745.2_Splice_Site_p.R321Q	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	321					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GTTTGGAAGCGAGTGATAGAC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19105	0.0		0.001	False		,,,				2504	0.0																0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	90.0	95.0	93.0		713,962,962,887	4.5	1.0	14	dbSNP_134	93	5,8595	4.3+/-15.6	0,5,4295	yes	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	TRAF3	NM_001199427.1,NM_003300.3,NM_145725.2,NM_145726.2	43,43,43,43	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	238/486,321/569,321/569,296/544	103369593	6,13000	2203	4300	6503	SO:0001630	splice_region_variant	7187			U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.961-1G>A	14.37:g.103369593G>A			B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R321Q	ENST00000560371.1	37	c.962	CCDS9975.1	14	.	.	.	.	.	.	.	.	.	.	G	15.27	2.785023	0.49997	2.27E-4	5.81E-4	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T	0.28895	1.59;1.59;1.59	4.53	4.53	0.55603	.	0.377447	0.28624	N	0.014691	T	0.15869	0.0382	N	0.14661	0.345	0.41244	D	0.98666	B;B;B	0.33857	0.429;0.0;0.016	B;B;B	0.20767	0.031;0.002;0.018	T	0.08493	-1.0719	10	0.08599	T	0.76	-2.6903	17.6388	0.88129	0.0:0.0:1.0:0.0	.	238;296;321	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	Q	321;296;321;238	ENSP00000376500:R321Q;ENSP00000328003:R296Q;ENSP00000445998:R238Q	ENSP00000328003:R296Q	R	+	2	0	TRAF3	102439346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.633000	0.61318	2.242000	0.73789	0.655000	0.94253	CGA	TRAF3	-	pirsf_TNF_rcpt--assoc_TRAF		0.502	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF3	HGNC	protein_coding	OTTHUMT00000415735.1	G	NM_145725	Missense_Mutation	103369593	+1	no_errors	ENST00000392745	ensembl	human	known	70_37	missense	SNP	1.000	A
TRIM5	85363	genome.wustl.edu	37	11	5687321	5687321	+	Intron	DEL	A	A	-			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr11:5687321delA	ENST00000380034.3	-	6	1024				TRIM5_ENST00000305836.5_Splice_Site|TRIM5_ENST00000396847.3_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396853.4_Frame_Shift_Del_p.L254fs	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5						activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCTAAGaattaaaaaaaaaaa	0.398																																																	0													33.0	36.0	35.0					11																	5687321		2192	4295	6487	SO:0001627	intron_variant	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.768-10T>-	11.37:g.5687321delA			A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Frame_Shift_Del	DEL	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L254fs	ENST00000380034.3	37	c.761	CCDS31393.1	11																																																																																			TRIM5	-	NULL		0.398	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM5	HGNC	protein_coding	OTTHUMT00000143360.3	A	NM_033034		5687321	-1	no_errors	ENST00000396853	ensembl	human	known	70_37	frame_shift_del	DEL	0.002	-
NCBP2L	392517	genome.wustl.edu	37	X	107018613	107018613	+	5'Flank	SNP	C	C	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chrX:107018613C>T	ENST00000509000.2	+	0	0				TSC22D3_ENST00000372383.4_Missense_Mutation_p.G13S|TSC22D3_ENST00000514426.1_Intron|TSC22D3_ENST00000506081.1_Missense_Mutation_p.G13S|TSC22D3_ENST00000315660.4_Missense_Mutation_p.G13S|TSC22D3_ENST00000372384.2_Missense_Mutation_p.G13S			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)			large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						CAGTCGAGGCCGACAGGTGAG	0.687																																																	0													26.0	22.0	23.0					X																	107018613		2203	4294	6497	SO:0001631	upstream_gene_variant	1831					Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018613C>T	Exception_encountered			Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.G13S	ENST00000509000.2	37	c.37		X	.	.	.	.	.	.	.	.	.	.	c	33	5.291000	0.95546	.	.	ENSG00000157514	ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000506081;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650;ENST00000506724;ENST00000505965;ENST00000502961	.	.	.	5.21	5.21	0.72293	.	0.363989	0.31809	N	0.007040	T	0.66218	0.2767	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70153	-0.4950	9	0.87932	D	0	-22.5558	15.3744	0.74593	0.0:1.0:0.0:0.0	.	13	Q99576-3	.	S	13	.	ENSP00000314655:G13S	G	-	1	0	TSC22D3	106905269	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.169000	0.77578	2.310000	0.77875	0.597000	0.82753	GGC	TSC22D3	-	NULL		0.687	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057850.2	C	XM_373362		107018613	-1	no_errors	ENST00000315660	ensembl	human	known	70_37	missense	SNP	1.000	T
TTLL6	284076	genome.wustl.edu	37	17	46863530	46863530	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr17:46863530T>A	ENST00000393382.3	-	12	1898	c.1757A>T	c.(1756-1758)aAa>aTa	p.K586I	TTLL6_ENST00000433608.2_Missense_Mutation_p.K279I	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTTTACCTGTTTGGAGGCTTG	0.592																																																	0													370.0	341.0	351.0					17																	46863530		2203	4300	6503	SO:0001583	missense	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1757A>T	17.37:g.46863530T>A	ENSP00000377043:p.Lys586Ile			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.K586I	ENST00000393382.3	37	c.1757	CCDS45724.1	17	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158060	0.57368	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.63	-0.874	0.10631	.	427.774000	0.00166	N	0.000000	T	0.62974	0.2472	L	0.59436	1.845	0.28872	N	0.894877	D;D;D	0.76494	0.966;0.989;0.999	P;P;D	0.64410	0.641;0.726;0.925	T	0.52533	-0.8563	9	0.51188	T	0.08	.	9.0347	0.36280	0.0:0.5217:0.0:0.4783	.	538;339;279	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	I	586;279;264;538	.	ENSP00000302547:K279I	K	-	2	0	TTLL6	44218529	1.000000	0.71417	0.997000	0.53966	0.135000	0.20990	0.472000	0.22116	-0.056000	0.13221	0.459000	0.35465	AAA	TTLL6	-	NULL		0.592	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	T	NM_173623		46863530	-1	no_errors	ENST00000393382	ensembl	human	known	70_37	missense	SNP	0.997	A
UBAP2L	9898	genome.wustl.edu	37	1	154201178	154201178	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr1:154201178C>T	ENST00000361546.2	+	3	298	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	UBAP2L_ENST00000428931.1_Missense_Mutation_p.L86F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.L86F|UBAP2L_ENST00000343815.6_Missense_Mutation_p.L86F			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	86	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TATCAATGTTCTTCTGGAAGG	0.418																																																	0													188.0	163.0	172.0					1																	154201178		2203	4300	6503	SO:0001583	missense	9898			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.256C>T	1.37:g.154201178C>T	ENSP00000355343:p.Leu86Phe		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.L86F	ENST00000361546.2	37	c.256	CCDS1063.1	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685414	0.47991	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000441890;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T;T	0.65364	1.38;1.38;-0.15;1.38;-0.15;-0.15;-0.15;-0.15;1.38	4.6	4.6	0.57074	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);UBA-like (1);	0.000000	0.64402	D	0.000002	T	0.69940	0.3167	M	0.72118	2.19	0.53005	D	0.999966	D;D;D;D	0.76494	0.985;0.999;0.999;0.998	D;D;D;D	0.80764	0.924;0.994;0.994;0.986	T	0.73949	-0.3821	10	0.87932	D	0	-4.3744	10.2241	0.43214	0.0:0.9097:0.0:0.0903	.	86;86;86;86	F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;UBP2L_HUMAN	F	86	ENSP00000345308:L86F;ENSP00000389445:L86F;ENSP00000399920:L86F;ENSP00000271877:L86F;ENSP00000389052:L86F;ENSP00000357490:L86F;ENSP00000389717:L86F;ENSP00000415310:L86F;ENSP00000355343:L86F	ENSP00000271877:L86F	L	+	1	0	UBAP2L	152467802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.827000	0.48112	2.392000	0.81423	0.655000	0.94253	CTT	UBAP2L	-	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk		0.418	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	C	NM_014847		154201178	+1	no_errors	ENST00000361546	ensembl	human	known	70_37	missense	SNP	1.000	T
VLDLR	7436	genome.wustl.edu	37	9	2643216	2643216	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr9:2643216A>G	ENST00000382100.3	+	5	861	c.505A>G	c.(505-507)Agg>Ggg	p.R169G	VLDLR_ENST00000382099.2_Missense_Mutation_p.R169G|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	169	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTGCATCTCCAGGAACTTTGT	0.542																																																	0													98.0	98.0	98.0					9																	2643216		2203	4300	6503	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.505A>G	9.37:g.2643216A>G	ENSP00000371532:p.Arg169Gly		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R169G	ENST00000382100.3	37	c.505	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	A	12.19	1.864081	0.32884	.	.	ENSG00000147852	ENST00000382100;ENST00000382096;ENST00000382099	D;D;D	0.95518	-3.73;-3.73;-3.73	5.5	4.33	0.51752	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.220646	0.30277	N	0.009989	D	0.90287	0.6962	N	0.17872	0.535	0.80722	D	1	B;B;B	0.23540	0.031;0.039;0.087	B;B;B	0.29440	0.047;0.079;0.102	D	0.85007	0.0903	10	0.18710	T	0.47	.	12.6779	0.56906	0.8622:0.1378:0.0:0.0	.	169;169;169	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	G	169;128;169	ENSP00000371532:R169G;ENSP00000371528:R128G;ENSP00000371531:R169G	ENSP00000371528:R128G	R	+	1	2	VLDLR	2633216	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.419000	0.44671	1.058000	0.40530	0.533000	0.62120	AGG	VLDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt		0.542	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	A	NM_003383		2643216	+1	no_errors	ENST00000382100	ensembl	human	known	70_37	missense	SNP	0.984	G
VPS45	11311	genome.wustl.edu	37	1	150082514	150082514	+	Intron	DEL	A	A	-			TCGA-IR-A3L7-01A-21D-A20U-09	TCGA-IR-A3L7-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3ae4ff71-2436-454a-bd10-33c454f966ef	0af7301e-afd2-4a54-9421-a69ef71c956e	g.chr1:150082514delA	ENST00000369130.3	+	14	2039				VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000535106.1_Intron|VPS45_ENST00000369128.5_Intron	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)						blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCCTCCACCAAAAAAAAAAG	0.303																																																	0																																										SO:0001627	intron_variant	11311			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.1494-97A>-	1.37:g.150082514delA			D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	RNA	DEL	-	NULL	ENST00000369130.3	37	NULL	CCDS944.1	1																																																																																			VPS45	-	-		0.303	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	A	NM_007259		150082514	+1	no_errors	ENST00000484306	ensembl	human	known	70_37	rna	DEL	0.965	-
