#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCA3	21	genome.wustl.edu	37	16	2336854	2336854	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:2336854G>C	ENST00000301732.5	-	22	3819	c.3119C>G	c.(3118-3120)gCc>gGc	p.A1040G	ABCA3_ENST00000382381.3_Missense_Mutation_p.A982G	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1040					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GTTGAACAAGGCGTTGACGAC	0.597																																																	0													105.0	99.0	101.0					16																	2336854		2198	4300	6498	SO:0001583	missense	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3119C>G	16.37:g.2336854G>C	ENSP00000301732:p.Ala1040Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A1040G	ENST00000301732.5	37	c.3119	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	G	9.752	1.167622	0.21621	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.87334	-2.24	4.76	3.8	0.43715	.	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	L	0.55834	1.745	0.80722	D	1	B;B	0.33044	0.118;0.395	B;B	0.41764	0.169;0.366	D	0.84020	0.0353	10	0.36615	T	0.2	.	12.1671	0.54135	0.0839:0.0:0.9161:0.0	.	1044;1040	Q4LE27;Q99758	.;ABCA3_HUMAN	G	1040;1044	ENSP00000301732:A1040G	ENSP00000301732:A1040G	A	-	2	0	ABCA3	2276855	1.000000	0.71417	0.129000	0.21949	0.003000	0.03518	7.130000	0.77235	1.368000	0.46115	0.643000	0.83706	GCC	ABCA3	-	NULL		0.597	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	G	NM_001089		2336854	-1	no_errors	ENST00000301732	ensembl	human	known	70_37	missense	SNP	0.856	C
ABCA7	10347	genome.wustl.edu	37	19	1056231	1056231	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:1056231G>T	ENST00000263094.6	+	32	4636	c.4405G>T	c.(4405-4407)Gac>Tac	p.D1469Y	ABCA7_ENST00000433129.1_Missense_Mutation_p.D1469Y|ABCA7_ENST00000435683.2_Missense_Mutation_p.D1331Y	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1469					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGCTCAGGACAGTCTCAA	0.632																																																	0													47.0	49.0	48.0					19																	1056231		2203	4300	6503	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4405G>T	19.37:g.1056231G>T	ENSP00000263094:p.Asp1469Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D1469Y	ENST00000263094.6	37	c.4405	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105276	0.37145	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.86956	-2.19;-2.19	3.04	-4.15	0.03881	.	.	.	.	.	T	0.80919	0.4716	L	0.45698	1.435	0.09310	N	0.999999	B	0.29341	0.242	B	0.35899	0.213	T	0.69632	-0.5093	9	0.41790	T	0.15	.	6.013	0.19586	0.6599:0.1654:0.1747:0.0	.	1469	Q8IZY2	ABCA7_HUMAN	Y	1469	ENSP00000263094:D1469Y;ENSP00000414062:D1469Y	ENSP00000263094:D1469Y	D	+	1	0	ABCA7	1007231	0.320000	0.24616	0.034000	0.17996	0.264000	0.26372	0.306000	0.19279	-0.710000	0.05001	-0.258000	0.10820	GAC	ABCA7	-	NULL		0.632	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	G	NM_019112		1056231	+1	no_errors	ENST00000263094	ensembl	human	known	70_37	missense	SNP	0.101	T
ACOT7	11332	genome.wustl.edu	37	1	6399616	6399616	+	Missense_Mutation	SNP	G	G	A	rs201654646		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:6399616G>A	ENST00000377855.2	-	3	471	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	ACOT7_ENST00000377845.3_Missense_Mutation_p.R79C|ACOT7_ENST00000545482.1_5'UTR|ACOT7_ENST00000608083.1_Missense_Mutation_p.R67C|ACOT7_ENST00000541130.1_Missense_Mutation_p.R79C|ACOT7_ENST00000377842.3_Missense_Mutation_p.R58C|ACOT7_ENST00000361521.4_Missense_Mutation_p.R99C	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	109	Acyl coenzyme A hydrolase 1.				coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		AAGTCGGTGCGCTCGACACGA	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		15108	0.0		0.001	False		,,,				2504	0.0				GBM(74;673 1226 4974 11850 13190)												0													53.0	51.0	52.0					1																	6399616		2203	4300	6503	SO:0001583	missense	11332			AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"""Acyl CoA thioesterases"""	24157	protein-coding gene	gene with protein product	"""brain acyl CoA hydrolase"""	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.325C>T	1.37:g.6399616G>A	ENSP00000367086:p.Arg109Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Missense_Mutation	SNP	pfam_Thioestr_supf	p.R109C	ENST00000377855.2	37	c.325	CCDS65.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971607	0.74246	.	.	ENSG00000097021	ENST00000377855;ENST00000377845;ENST00000377842;ENST00000361521;ENST00000541130	T;T;T;T;T	0.46819	1.86;0.86;0.86;0.86;0.86	4.88	4.88	0.63580	Thioesterase superfamily (1);	0.132589	0.49305	N	0.000156	T	0.70718	0.3256	M	0.83012	2.62	0.80722	D	1	B;P;D;B	0.89917	0.41;0.468;1.0;0.274	B;B;D;B	0.69142	0.054;0.081;0.962;0.022	T	0.75283	-0.3372	10	0.56958	D	0.05	.	17.3841	0.87412	0.0:0.0:1.0:0.0	.	99;109;79;58	B3KQ12;O00154;O00154-5;O00154-6	.;BACH_HUMAN;.;.	C	109;79;58;99;79	ENSP00000367086:R109C;ENSP00000367076:R79C;ENSP00000367073:R58C;ENSP00000354615:R99C;ENSP00000441872:R79C	ENSP00000354615:R99C	R	-	1	0	ACOT7	6322203	1.000000	0.71417	0.992000	0.48379	0.612000	0.37316	5.858000	0.69532	2.402000	0.81655	0.655000	0.94253	CGC	ACOT7	-	pfam_Thioestr_supf		0.647	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOT7	HGNC	protein_coding	OTTHUMT00000003773.1	G	NM_007274		6399616	-1	no_errors	ENST00000377855	ensembl	human	known	70_37	missense	SNP	1.000	A
ADCY8	114	genome.wustl.edu	37	8	131859744	131859744	+	Missense_Mutation	SNP	C	C	G	rs201870639		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:131859744C>G	ENST00000286355.5	-	11	4520	c.2428G>C	c.(2428-2430)Gac>Cac	p.D810H	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	810					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATCGACTTGTCAAAATCACAC	0.393										HNSCC(32;0.087)																																							0								C	HIS/ASP	0,4406		0,0,2203	62.0	62.0	62.0		2428	6.1	1.0	8		62	2,8598	2.2+/-6.3	0,2,4298	no	missense	ADCY8	NM_001115.2	81	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	probably-damaging	810/1252	131859744	2,13004	2203	4300	6503	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2428G>C	8.37:g.131859744C>G	ENSP00000286355:p.Asp810His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D810H	ENST00000286355.5	37	c.2428	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896442	0.91962	0.0	2.33E-4	ENSG00000155897	ENST00000286355	T	0.44083	0.93	6.06	6.06	0.98353	.	0.175397	0.50627	D	0.000115	T	0.43875	0.1267	L	0.44542	1.39	0.80722	D	1	P	0.46912	0.886	B	0.43867	0.434	T	0.23440	-1.0188	10	0.46703	T	0.11	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	810	P40145	ADCY8_HUMAN	H	810	ENSP00000286355:D810H	ENSP00000286355:D810H	D	-	1	0	ADCY8	131928926	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.193000	0.65120	2.882000	0.98803	0.655000	0.94253	GAC	ADCY8	-	NULL		0.393	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	C			131859744	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	missense	SNP	1.000	G
ADCYAP1R1	117	genome.wustl.edu	37	7	31135348	31135348	+	Intron	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:31135348C>A	ENST00000304166.4	+	13	1335				ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.H372N|ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000396211.2_Intron	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I						activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTCAGACCAGCATTCACTCCC	0.537																																					Ovarian(44;225 1186 2158 11092)												0																																										SO:0001627	intron_variant	117				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1046+2999C>A	7.37:g.31135348C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.H372N	ENST00000304166.4	37	c.1114	CCDS5433.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.59|12.59	1.983584|1.983584	0.35036|0.35036	.|.	.|.	ENSG00000078549|ENSG00000078549	ENST00000436116|ENST00000381667;ENST00000409489	.|T	.|0.45276	.|0.9	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|.	.|.	.|.	.|.	T|T	0.36635|0.36635	0.0974|0.0974	.|.	.|.	.|.	0.22435|0.22435	N|N	0.999107|0.999107	.|B	.|0.33000	.|0.393	.|B	.|0.33846	.|0.171	T|T	0.27226|0.27226	-1.0080|-1.0080	4|8	.|0.44086	.|T	.|0.13	.|.	14.0547|14.0547	0.64761|0.64761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|372	.|E9PFU5	.|.	E|N	88|143;372	.|ENSP00000386395:H372N	.|ENSP00000371083:H143N	A|H	+|+	2|1	0|0	ADCYAP1R1|ADCYAP1R1	31101873|31101873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.311000|3.311000	0.51919|0.51919	2.704000|2.704000	0.92352|0.92352	0.655000|0.655000	0.94253|0.94253	GCA|CAT	ADCYAP1R1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.537	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	C	NM_001118		31135348	+1	no_errors	ENST00000409489	ensembl	human	novel	70_37	missense	SNP	1.000	A
ADPGK	83440	genome.wustl.edu	37	15	73076271	73076271	+	5'Flank	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:73076271C>T	ENST00000311669.8	-	0	0				ADPGK-AS1_ENST00000566745.1_RNA|ADPGK-AS1_ENST00000563592.1_RNA|ADPGK_ENST00000567733.1_5'Flank	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase						glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GGCGGTTGTGCCAGTCCGGGC	0.637																																																	0																																										SO:0001631	upstream_gene_variant	100287559			AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777		15.37:g.73076271C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	RNA	SNP	-	NULL	ENST00000311669.8	37	NULL	CCDS42057.1	15																																																																																			ADPGK-AS1	-	-		0.637	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPGK-AS1	HGNC	protein_coding	OTTHUMT00000420434.1	C	NM_031284		73076271	+1	no_errors	ENST00000563592	ensembl	human	known	70_37	rna	SNP	0.000	T
ADRA1A	148	genome.wustl.edu	37	8	26614137	26614137	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:26614137G>A	ENST00000380581.2	-	2	1478	c.1043C>T	c.(1042-1044)tCt>tTt	p.S348F	ADRA1A_ENST00000519229.1_3'UTR|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380582.3_3'UTR			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCTTGATAAAGAAGTAAATCC	0.463																																																	0																																										SO:0001583	missense	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000380581.2:c.1043C>T	8.37:g.26614137G>A	ENSP00000369955:p.Ser348Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Adrene_rcpt_A1Cs,prints_Adrnrgc_rcpt	p.S348F	ENST00000380581.2	37	c.1043		8	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344271	0.24339	.	.	ENSG00000120907	ENST00000380581	T	0.58358	0.34	4.01	2.19	0.27852	.	.	.	.	.	T	0.34571	0.0902	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18555	-1.0333	8	0.33940	T	0.23	.	4.8877	0.13712	0.1093:0.0:0.681:0.2097	.	348	P35348-9	.	F	348	ENSP00000369955:S348F	ENSP00000369955:S348F	S	-	2	0	ADRA1A	26670054	0.004000	0.15560	0.001000	0.08648	0.005000	0.04900	0.503000	0.22610	0.631000	0.30412	0.484000	0.47621	TCT	ADRA1A	-	NULL		0.463	ADRA1A-202	KNOWN	basic	protein_coding	ADRA1A	HGNC	protein_coding		G	NM_033303		26614137	-1	no_errors	ENST00000380581	ensembl	human	known	70_37	missense	SNP	0.001	A
AIM1	202	genome.wustl.edu	37	6	107008788	107008788	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:107008788G>A	ENST00000369066.3	+	17	5229	c.4742G>A	c.(4741-4743)cGa>cAa	p.R1581Q	AIM1_ENST00000535438.1_Missense_Mutation_p.R400Q	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R1581Q(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGTTCTCTACGACCTTTTGTT	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											151.0	153.0	153.0					6																	107008788		2203	4300	6503	SO:0001583	missense	202			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4742G>A	6.37:g.107008788G>A	ENSP00000358062:p.Arg1581Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.R1581Q	ENST00000369066.3	37	c.4742	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.424585	0.96111	.	.	ENSG00000112297	ENST00000369066;ENST00000535438	D;D	0.81739	-1.53;-1.53	6.06	6.06	0.98353	Ricin B-related lectin (1);Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.56097	D	0.000026	D	0.92795	0.7709	H	0.94886	3.595	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.93515	0.6856	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	400;1581	B4DU04;Q9Y4K1	.;AIM1_HUMAN	Q	1581;400	ENSP00000358062:R1581Q;ENSP00000439183:R400Q	ENSP00000358062:R1581Q	R	+	2	0	AIM1	107115481	1.000000	0.71417	0.902000	0.35471	0.991000	0.79684	6.339000	0.72969	2.882000	0.98803	0.655000	0.94253	CGA	AIM1	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.378	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	G			107008788	+1	no_errors	ENST00000369066	ensembl	human	known	70_37	missense	SNP	0.959	A
ALDOC	230	genome.wustl.edu	37	17	26902544	26902544	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:26902544G>C	ENST00000226253.4	-	2	482	c.7C>G	c.(7-9)Cac>Gac	p.H3D	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Missense_Mutation_p.H3D|ALDOC_ENST00000395319.3_Missense_Mutation_p.H3D	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	3					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GGGTACGAGTGAGGCATGGTG	0.577											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63.0	55.0	58.0					17																	26902544		2203	4300	6503	SO:0001583	missense	230			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.7C>G	17.37:g.26902544G>C	ENSP00000226253:p.His3Asp	Somatic	790	WXS	Illumina HiSeq	Phase_IV	B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	pfam_Aldolase_I	p.H3D	ENST00000226253.4	37	c.7	CCDS11236.1	17	.	.	.	.	.	.	.	.	.	.	G	4.060	0.008846	0.07912	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321;ENST00000435638	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	6.07	5.1	0.69264	.	0.096120	0.64402	D	0.000001	D	0.85561	0.5725	M	0.75447	2.3	0.49915	D	0.999838	B;B	0.17268	0.021;0.011	B;B	0.23716	0.032;0.048	T	0.82339	-0.0506	10	0.40728	T	0.16	.	15.8245	0.78686	0.0:0.0:0.8631:0.1369	.	3;3	A8MVZ9;P09972	.;ALDOC_HUMAN	D	3	ENSP00000378729:H3D;ENSP00000226253:H3D;ENSP00000378731:H3D;ENSP00000398976:H3D	ENSP00000226253:H3D	H	-	1	0	ALDOC	23926671	1.000000	0.71417	0.996000	0.52242	0.094000	0.18550	5.615000	0.67702	1.569000	0.49696	0.655000	0.94253	CAC	ALDOC	-	NULL		0.577	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	G			26902544	-1	no_errors	ENST00000226253	ensembl	human	known	70_37	missense	SNP	0.996	C
ALKBH1	8846	genome.wustl.edu	37	14	78142096	78142096	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:78142096C>T	ENST00000216489.3	-	5	658	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	215	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATCCCTGCTTCAGCTCGGAAA	0.498																																																	0													98.0	97.0	97.0					14																	78142096		2203	4300	6503	SO:0001583	missense	8846			X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.643G>A	14.37:g.78142096C>T	ENSP00000216489:p.Glu215Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAU1|Q9ULA7	Missense_Mutation	SNP	tigrfam_Alkb	p.E215K	ENST00000216489.3	37	c.643	CCDS32127.1	14	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827161	0.71143	.	.	ENSG00000100601	ENST00000216489	T	0.32515	1.45	6.17	5.29	0.74685	Oxoglutarate/iron-dependent oxygenase (1);	0.098896	0.64402	D	0.000003	T	0.56587	0.1995	M	0.92367	3.3	0.54753	D	0.999983	P	0.48230	0.907	P	0.53809	0.735	T	0.67154	-0.5742	10	0.72032	D	0.01	-12.5159	12.2323	0.54495	0.0:0.8061:0.1274:0.0665	.	215	Q13686	ALKB1_HUMAN	K	215	ENSP00000216489:E215K	ENSP00000216489:E215K	E	-	1	0	ALKBH1	77211849	1.000000	0.71417	0.092000	0.20876	0.505000	0.33919	4.703000	0.61824	1.626000	0.50381	0.655000	0.94253	GAA	ALKBH1	-	tigrfam_Alkb		0.498	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH1	HGNC	protein_coding	OTTHUMT00000414037.1	C	NM_006020		78142096	-1	no_errors	ENST00000216489	ensembl	human	known	70_37	missense	SNP	0.967	T
AMD1	262	genome.wustl.edu	37	6	111213977	111213977	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:111213977G>A	ENST00000368885.3	+	7	991	c.655G>A	c.(655-657)Gat>Aat	p.D219N	AMD1_ENST00000368882.3_Missense_Mutation_p.D71N|AMD1_ENST00000451850.2_Missense_Mutation_p.D99N|AMD1_ENST00000368877.5_Missense_Mutation_p.D190N|AMD1_ENST00000368876.1_Missense_Mutation_p.D150N	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	219					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TTCTGTCATTGATGCCACAAT	0.383																																																	0													86.0	84.0	84.0					6																	111213977		2203	4300	6503	SO:0001583	missense	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.655G>A	6.37:g.111213977G>A	ENSP00000357880:p.Asp219Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.D219N	ENST00000368885.3	37	c.655	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.325852	0.95708	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000451850;ENST00000368877;ENST00000368876	.	.	.	5.24	5.24	0.73138	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	M	0.84846	2.72	0.80722	D	1	D;D;D	0.61080	0.989;0.977;0.983	P;P;D	0.65573	0.906;0.568;0.936	T	0.71955	-0.4436	9	0.07325	T	0.83	.	19.1921	0.93671	0.0:0.0:1.0:0.0	.	99;190;219	B4DZ60;A6NNH3;P17707	.;.;DCAM_HUMAN	N	219;71;99;190;150	.	ENSP00000357870:D150N	D	+	1	0	AMD1	111320670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	2.607000	0.88179	0.585000	0.79938	GAT	AMD1	-	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr		0.383	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	G			111213977	+1	no_errors	ENST00000368885	ensembl	human	known	70_37	missense	SNP	1.000	A
AMOT	154796	genome.wustl.edu	37	X	112066006	112066006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:112066006G>A	ENST00000524145.1	-	2	423	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	AMOT_ENST00000462114.1_5'Flank|AMOT_ENST00000304758.1_Intron|AMOT_ENST00000371958.1_5'Flank|AMOT_ENST00000371962.1_5'Flank|AMOT_ENST00000371959.3_Nonsense_Mutation_p.Q117*			Q4VCS5	AMOT_HUMAN	angiomotin	117					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CGAAAGTACTGGGACTGGACC	0.507																																																	0													61.0	41.0	47.0					X																	112066006		692	1591	2283	SO:0001587	stop_gained	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.349C>T	X.37:g.112066006G>A	ENSP00000429013:p.Gln117*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.Q117*	ENST00000524145.1	37	c.349	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.291072	0.95546	.	.	ENSG00000126016	ENST00000371959;ENST00000524145	.	.	.	5.92	5.92	0.95590	.	0.117135	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.1896	18.1369	0.89622	0.0:0.0:1.0:0.0	.	.	.	.	X	117	.	.	Q	-	1	0	AMOT	111952662	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.506000	0.84524	0.600000	0.82982	CAG	AMOT	-	NULL		0.507	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	G	NM_133265		112066006	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ANK1	286	genome.wustl.edu	37	8	41546047	41546047	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:41546047G>A	ENST00000347528.4	-	34	4248	c.4165C>T	c.(4165-4167)Ctc>Ttc	p.L1389F	ANK1_ENST00000352337.4_Missense_Mutation_p.L1389F|ANK1_ENST00000396945.1_Missense_Mutation_p.L1389F|ANK1_ENST00000289734.7_Missense_Mutation_p.L1389F|ANK1_ENST00000379758.2_Missense_Mutation_p.L1389F|ANK1_ENST00000396942.1_Missense_Mutation_p.L1389F|ANK1_ENST00000265709.8_Missense_Mutation_p.L1430F	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1389	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GACTCACTGAGAATGCTGTAT	0.587																																																	0													127.0	95.0	106.0					8																	41546047		2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4165C>T	8.37:g.41546047G>A	ENSP00000339620:p.Leu1389Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.L1389F	ENST00000347528.4	37	c.4165	CCDS6119.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.990120|2.990120	0.54041|0.54041	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|.	0.69685|.	-0.42;-0.42;-0.39;-0.38;-0.4;-0.38;-0.42|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.140005|.	0.48767|.	D|.	0.000165|.	T|T	0.73536|0.73536	0.3599|0.3599	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	D;D;B;B;D;D|.	0.67145|.	0.987;0.996;0.117;0.313;0.987;0.983|.	D;D;B;B;D;P|.	0.68192|.	0.937;0.943;0.14;0.188;0.956;0.753|.	T|T	0.72235|0.72235	-0.4352|-0.4352	10|5	0.40728|.	T|.	0.16|.	.|.	16.5798|16.5798	0.84712|0.84712	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1430;1389;1389;1389;1389;705|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	F|F	1389;1389;1389;1389;1389;1389;1430;1389|710	ENSP00000339620:L1389F;ENSP00000289734:L1389F;ENSP00000369082:L1389F;ENSP00000380149:L1389F;ENSP00000380147:L1389F;ENSP00000309131:L1389F;ENSP00000265709:L1430F|.	ENSP00000265709:L1430F|.	L|S	-|-	1|2	0|0	ANK1|ANK1	41665204|41665204	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.053000|0.053000	0.15095|0.15095	4.624000|4.624000	0.61254|0.61254	2.579000|2.579000	0.87056|0.87056	0.462000|0.462000	0.41574|0.41574	CTC|TCT	ANK1	-	NULL		0.587	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	G	NM_020475		41546047	-1	no_errors	ENST00000396942	ensembl	human	known	70_37	missense	SNP	0.997	A
ANKRD50	57182	genome.wustl.edu	37	4	125591339	125591339	+	Silent	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:125591339C>G	ENST00000504087.1	-	4	4130	c.3093G>C	c.(3091-3093)ctG>ctC	p.L1031L	ANKRD50_ENST00000515641.1_Silent_p.L852L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1031										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CATGCTCAATCAGAAGCTGAA	0.483																																																	0													105.0	87.0	93.0					4																	125591339		2203	4300	6503	SO:0001819	synonymous_variant	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3093G>C	4.37:g.125591339C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L1031	ENST00000504087.1	37	c.3093	CCDS34060.1	4																																																																																			ANKRD50	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.483	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	C	NM_020337		125591339	-1	no_errors	ENST00000504087	ensembl	human	known	70_37	silent	SNP	0.987	G
KB-7G2.8	0	genome.wustl.edu	37	22	17160241	17160241	+	lincRNA	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:17160241G>C	ENST00000423580.2	-	0	600				ANKRD62P1-PARP4P3_ENST00000338526.6_RNA																							GTCTGTTTCAGATAGTACCTT	0.284																																																	0																																												23783																															22.37:g.17160241G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000423580.2	37	NULL		22																																																																																			ANKRD62P1-PARP4P3	-	-		0.284	KB-7G2.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	ANKRD62P1-PARP4P3	HGNC	lincRNA	OTTHUMT00000418976.1	G			17160241	-1	no_errors	ENST00000338526	ensembl	human	known	70_37	rna	SNP	0.110	C
ANO9	338440	genome.wustl.edu	37	11	430149	430149	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:430149G>A	ENST00000332826.6	-	9	789	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	235					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGGGACACATGAGGATGTCGT	0.682																																																	0													24.0	21.0	22.0					11																	430149		2130	4207	6337	SO:0001819	synonymous_variant	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.705C>T	11.37:g.430149G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUC4|B4E134|Q8TEN4	Silent	SNP	pfam_Anoctamin	p.L235	ENST00000332826.6	37	c.705	CCDS31326.1	11																																																																																			ANO9	-	pfam_Anoctamin		0.682	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	G	NM_001012302		430149	-1	no_errors	ENST00000332826	ensembl	human	known	70_37	silent	SNP	0.988	A
AOC2	314	genome.wustl.edu	37	17	41001224	41001224	+	Silent	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:41001224G>C	ENST00000253799.3	+	2	1737	c.1710G>C	c.(1708-1710)ctG>ctC	p.L570L	AOC2_ENST00000452774.2_Silent_p.L570L|AOC3_ENST00000308423.2_5'Flank	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	570					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGAGGACCTGACAGCTTTTT	0.607																																																	0													48.0	51.0	50.0					17																	41001224		2203	4300	6503	SO:0001819	synonymous_variant	314			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1710G>C	17.37:g.41001224G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.L570	ENST00000253799.3	37	c.1710	CCDS11443.1	17																																																																																			AOC2	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C		0.607	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	G	NM_009590, NM_001158		41001224	+1	no_errors	ENST00000253799	ensembl	human	known	70_37	silent	SNP	0.798	C
AR	367	genome.wustl.edu	37	X	66766450	66766450	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:66766450C>T	ENST00000374690.3	+	1	1986	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	AR_ENST00000504326.1_Nonsense_Mutation_p.Q488*|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Nonsense_Mutation_p.Q488*	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	487	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TCGGCCCCCTCAGGGGCTGGC	0.741									Androgen Insensitivity Syndrome																																								0			GRCh37	CM015295	AR	M							16.0	13.0	14.0					X																	66766450		2172	4231	6403	SO:0001587	stop_gained	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1462C>T	X.37:g.66766450C>T	ENSP00000363822:p.Gln488*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUN2|B1AKD7|Q9UD95	Nonsense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.Q488*	ENST00000374690.3	37	c.1462	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	c	43	9.889457	0.99289	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	.	.	.	5.06	5.06	0.68205	.	0.526840	0.19041	N	0.124299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.701	0.69157	0.0:1.0:0.0:0.0	.	.	.	.	X	298;488;488;488;480	.	ENSP00000363822:Q488X	Q	+	1	0	AR	66683175	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.660000	0.61511	2.349000	0.79799	0.509000	0.49947	CAG	AR	-	NULL		0.741	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	C	NM_000044		66766450	+1	no_errors	ENST00000374690	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARFGAP2	84364	genome.wustl.edu	37	11	47187024	47187024	+	3'UTR	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:47187024G>T	ENST00000524782.1	-	0	1803				ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_3'UTR|ARFGAP2_ENST00000319543.6_3'UTR|ARFGAP2_ENST00000426335.2_3'UTR|RP11-390K5.6_ENST00000524412.1_RNA	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2						protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CTGAGTCACAGAGCTCGGATC	0.527																																																	0													161.0	151.0	154.0					11																	47187024		2201	4299	6500	SO:0001624	3_prime_UTR_variant	84364			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.*9C>A	11.37:g.47187024G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	RNA	SNP	-	NULL	ENST00000524782.1	37	NULL	CCDS7926.1	11																																																																																			ARFGAP2	-	-		0.527	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP2	HGNC	protein_coding	OTTHUMT00000391425.1	G	NM_032389		47187024	-1	no_errors	ENST00000395449	ensembl	human	known	70_37	rna	SNP	0.000	T
ARIH2	10425	genome.wustl.edu	37	3	49006070	49006070	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:49006070C>T	ENST00000356401.4	+	7	981	c.642C>T	c.(640-642)ctC>ctT	p.L214L	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Silent_p.L214L	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	214					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GGCGCTACCTCTTCAGGGACT	0.502																																																	0													157.0	154.0	155.0					3																	49006070		2203	4300	6503	SO:0001819	synonymous_variant	10425			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.642C>T	3.37:g.49006070C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HBZ6|Q9UEM9	Silent	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.L214	ENST00000356401.4	37	c.642	CCDS2780.1	3																																																																																			ARIH2	-	pfam_Znf_C6HC,smart_Znf_C6HC		0.502	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	C	NM_006321		49006070	+1	no_errors	ENST00000356401	ensembl	human	known	70_37	silent	SNP	1.000	T
ARSE	415	genome.wustl.edu	37	X	2878447	2878447	+	5'UTR	SNP	C	C	T	rs370572358|rs200332753|rs367891065		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:2878447C>T	ENST00000381134.3	-	0	61				ARSE_ENST00000496095.1_5'UTR|ARSE_ENST00000540563.1_Missense_Mutation_p.D8N|ARSE_ENST00000545496.1_5'UTR	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AACATGTTGTCTCTCTCTCTA	0.353																																																	0													194.0	169.0	177.0					X																	2878447		2203	4298	6501	SO:0001623	5_prime_UTR_variant	415			X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.-6G>A	X.37:g.2878447C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FT2|Q53FU8	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.D8N	ENST00000381134.3	37	c.22	CCDS14122.1	X	.	.	.	.	.	.	.	.	.	.	c	2.622	-0.288448	0.05605	.	.	ENSG00000157399	ENST00000540563	D	0.95918	-3.85	2.01	1.11	0.20524	.	.	.	.	.	D	0.90978	0.7163	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.82139	-0.0605	5	.	.	.	.	4.3359	0.11087	0.0:0.7786:0.0:0.2214	.	.	.	.	N	8	ENSP00000438198:D8N	.	D	-	1	0	ARSE	2888447	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.087000	0.11215	0.136000	0.18733	-0.381000	0.06696	GAC	ARSE	-	NULL		0.353	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSE	HGNC	protein_coding	OTTHUMT00000055643.1	C	NM_000047		2878447	-1	no_errors	ENST00000540563	ensembl	human	known	70_37	missense	SNP	0.001	T
ASAP1	50807	genome.wustl.edu	37	8	131200418	131200418	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:131200418C>T	ENST00000518721.1	-	6	644	c.417G>A	c.(415-417)ttG>ttA	p.L139L	ASAP1_ENST00000357668.1_Silent_p.L139L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	139					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CATTGTGGCTCAAACCCTGGA	0.373																																																	0													106.0	109.0	108.0					8																	131200418		2203	4300	6503	SO:0001819	synonymous_variant	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.417G>A	8.37:g.131200418C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNV3	Silent	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.L139	ENST00000518721.1	37	c.417	CCDS6362.1	8																																																																																			ASAP1	-	NULL		0.373	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	C	NM_018482		131200418	-1	no_errors	ENST00000357668	ensembl	human	known	70_37	silent	SNP	1.000	T
ASPSCR1	79058	genome.wustl.edu	37	17	79954696	79954696	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:79954696C>T	ENST00000306739.4	+	7	1004	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	ASPSCR1_ENST00000306729.7_Missense_Mutation_p.P303S|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.P226S	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	303					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			ggagcgggatccccagcagga	0.647			T	TFE3	alveolar soft part sarcoma																																			Dom	yes		17	17q25	79058	"""alveolar soft part sarcoma chromosome region, candidate 1"""		M	0													43.0	54.0	50.0					17																	79954696		2198	4295	6493	SO:0001583	missense	79058			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"""UBX domain containing"""	13825	protein-coding gene	gene with protein product	"""UBX domain protein 9"""	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.907C>T	17.37:g.79954696C>T	ENSP00000302176:p.Pro303Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	pfam_TUG,pfam_UBX,pfscan_UBX	p.P303S	ENST00000306739.4	37	c.907	CCDS11796.1	17	.	.	.	.	.	.	.	.	.	.	C	4.932	0.173229	0.09391	.	.	ENSG00000169696	ENST00000306739;ENST00000306729;ENST00000344865	T;T	0.13420	2.59;2.59	2.23	-1.14	0.09741	.	0.635768	0.12450	U	0.467856	T	0.03608	0.0103	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.002;0.002;0.001;0.002	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.41538	-0.9503	10	0.06625	T	0.88	.	2.6031	0.04871	0.0:0.3996:0.2693:0.3311	.	226;226;303;303;226	Q9BZE9-3;Q9BZE9-4;Q9BZE9-2;Q9BZE9;C9JAL9	.;.;.;ASPC1_HUMAN;.	S	303;303;226	ENSP00000302176:P303S;ENSP00000306625:P303S	ENSP00000306625:P303S	P	+	1	0	ASPSCR1	77547985	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.227000	0.17795	-0.229000	0.09854	0.436000	0.28706	CCC	ASPSCR1	-	NULL		0.647	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	C	NM_024083		79954696	+1	no_errors	ENST00000306729	ensembl	human	known	70_37	missense	SNP	0.001	T
ATG2B	55102	genome.wustl.edu	37	14	96756851	96756851	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:96756851C>G	ENST00000359933.4	-	40	6671	c.5778G>C	c.(5776-5778)caG>caC	p.Q1926H	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1926					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGCGCCTCTCTGAAACCCTC	0.478																																																	0													116.0	98.0	104.0					14																	96756851		2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5778G>C	14.37:g.96756851C>G	ENSP00000353010:p.Gln1926His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.Q1926H	ENST00000359933.4	37	c.5778	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720804	0.68959	.	.	ENSG00000066739	ENST00000359933	T	0.15017	2.46	5.05	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.84082	2.675	0.54753	D	0.999984	D	0.71674	0.998	D	0.81914	0.995	T	0.41770	-0.9490	10	0.59425	D	0.04	.	11.1281	0.48330	0.0:0.7796:0.0:0.2204	.	1926	Q96BY7	ATG2B_HUMAN	H	1926	ENSP00000353010:Q1926H	ENSP00000261834:Q570H	Q	-	3	2	ATG2B	95826604	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	2.703000	0.47110	1.231000	0.43661	0.655000	0.94253	CAG	ATG2B	-	NULL		0.478	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	C	NM_018036		96756851	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP8B4	79895	genome.wustl.edu	37	15	50294401	50294401	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:50294401G>C	ENST00000284509.6	-	8	596	c.455C>G	c.(454-456)tCa>tGa	p.S152*	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.S152*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	152						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCACTACTTGATAGGAGAAG	0.308																																																	0													55.0	54.0	55.0					15																	50294401		2196	4295	6491	SO:0001587	stop_gained	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.455C>G	15.37:g.50294401G>C	ENSP00000284509:p.Ser152*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H727	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S152*	ENST00000284509.6	37	c.455	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.263171	0.97421	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.16	5.16	0.70880	.	0.072189	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1419	0.81533	0.0:0.0:1.0:0.0	.	.	.	.	X	152	.	ENSP00000284509:S152X	S	-	2	0	ATP8B4	48081693	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.586000	0.53950	2.428000	0.82296	0.655000	0.94253	TCA	ATP8B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.308	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	G	NM_024837		50294401	-1	no_errors	ENST00000284509	ensembl	human	known	70_37	nonsense	SNP	1.000	C
AWAT1	158833	genome.wustl.edu	37	X	69457007	69457007	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:69457007C>T	ENST00000374521.3	+	4	410	c.369C>T	c.(367-369)ttC>ttT	p.F123F	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	123					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCACAGGCTTCTCGAAGACCT	0.562																																																	0													80.0	56.0	64.0					X																	69457007		2203	4300	6503	SO:0001819	synonymous_variant	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.369C>T	X.37:g.69457007C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JT21|Q6IEE4	Silent	SNP	pfam_DAGAT	p.F123	ENST00000374521.3	37	c.369	CCDS35321.1	X																																																																																			AWAT1	-	pfam_DAGAT		0.562	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	C	NM_001013579		69457007	+1	no_errors	ENST00000374521	ensembl	human	known	70_37	silent	SNP	1.000	T
BAG4	9530	genome.wustl.edu	37	8	38065202	38065202	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:38065202C>T	ENST00000287322.4	+	3	822	c.551C>T	c.(550-552)tCt>tTt	p.S184F	BAG4_ENST00000432471.2_Missense_Mutation_p.S148F|BAG4_ENST00000521282.1_3'UTR	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	184					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				ACTCCAGTCTCTCGTTGGATC	0.502																																																	0													92.0	89.0	90.0					8																	38065202		2203	4300	6503	SO:0001583	missense	9530			AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.551C>T	8.37:g.38065202C>T	ENSP00000287322:p.Ser184Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E217|O95818	Missense_Mutation	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.S184F	ENST00000287322.4	37	c.551	CCDS6104.1	8	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191361	0.78902	.	.	ENSG00000156735	ENST00000432471;ENST00000287322;ENST00000521311	D;D	0.82984	-1.58;-1.67	5.3	4.43	0.53597	.	0.193798	0.46145	D	0.000308	T	0.80237	0.4586	L	0.60455	1.87	0.31503	N	0.664573	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.79955	-0.1585	10	0.72032	D	0.01	-11.1965	13.2927	0.60280	0.0:0.9234:0.0:0.0766	.	148;184	B4E217;O95429	.;BAG4_HUMAN	F	148;184;31	ENSP00000393298:S148F;ENSP00000287322:S184F	ENSP00000287322:S184F	S	+	2	0	BAG4	38184359	0.319000	0.24607	0.982000	0.44146	0.983000	0.72400	2.195000	0.42677	1.224000	0.43551	0.650000	0.86243	TCT	BAG4	-	NULL		0.502	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG4	HGNC	protein_coding	OTTHUMT00000377038.2	C	NM_004874		38065202	+1	no_errors	ENST00000287322	ensembl	human	known	70_37	missense	SNP	0.634	T
BAG6	7917	genome.wustl.edu	37	6	31607482	31607482	+	Intron	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:31607482C>G	ENST00000375964.6	-	24	3470				BAG6_ENST00000362049.6_Intron|BAG6_ENST00000375976.4_Intron|BAG6_ENST00000404765.2_Intron|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000211379.5_Intron	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6						brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTGCCACCATCCGGCTCACCC	0.552																																																	0																																										SO:0001627	intron_variant	7917			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.3157-59G>C	6.37:g.31607482C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	RNA	SNP	-	NULL	ENST00000375964.6	37	NULL	CCDS47403.1	6																																																																																			BAG6	-	-		0.552	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	HGNC	protein_coding		C	NM_080703		31607482	-1	no_errors	ENST00000464869	ensembl	human	putative	70_37	rna	SNP	1.000	G
BDP1	55814	genome.wustl.edu	37	5	70845414	70845414	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:70845414G>A	ENST00000358731.4	+	34	7239	c.6976G>A	c.(6976-6978)Gaa>Aaa	p.E2326K	BDP1_ENST00000380675.2_Intron	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2326					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGTGAATACCGAAGAAAGGGG	0.413																																																	0													89.0	83.0	85.0					5																	70845414		1894	4114	6008	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6976G>A	5.37:g.70845414G>A	ENSP00000351575:p.Glu2326Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E2326K	ENST00000358731.4	37	c.6976	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	2.817	-0.245716	0.05906	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.03772	3.81	5.96	3.2	0.36748	.	0.620043	0.16111	N	0.229117	T	0.02304	0.0071	N	0.20685	0.6	0.19300	N	0.999973	P	0.37500	0.597	B	0.26094	0.066	T	0.43605	-0.9381	10	0.13108	T	0.6	.	5.5772	0.17231	0.1695:0.1637:0.6667:0.0	.	2326	A6H8Y1	BDP1_HUMAN	K	2326;1874	ENSP00000351575:E2326K	ENSP00000351575:E2326K	E	+	1	0	BDP1	70881170	0.185000	0.23213	0.027000	0.17364	0.028000	0.11728	0.932000	0.28884	0.844000	0.35094	0.655000	0.94253	GAA	BDP1	-	NULL		0.413	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70845414	+1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.184	A
BEST2	54831	genome.wustl.edu	37	19	12868588	12868588	+	Silent	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:12868588G>T	ENST00000549706.1	+	10	1551	c.1227G>T	c.(1225-1227)ccG>ccT	p.P409P	BEST2_ENST00000042931.1_Silent_p.P409P|BEST2_ENST00000553030.1_Silent_p.P409P			Q8NFU1	BEST2_HUMAN	bestrophin 2	409					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CGGGAGGCCCGCTGGGCCGGC	0.721																																																	0													4.0	5.0	5.0					19																	12868588		1474	3241	4715	SO:0001819	synonymous_variant	54831			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.1227G>T	19.37:g.12868588G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53YQ8|Q9NXP0	Silent	SNP	pfam_Bestrophin/UPF0187	p.P409	ENST00000549706.1	37	c.1227	CCDS42506.1	19																																																																																			BEST2	-	NULL		0.721	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BEST2	HGNC	protein_coding	OTTHUMT00000403343.1	G	NM_017682		12868588	+1	no_errors	ENST00000042931	ensembl	human	known	70_37	silent	SNP	0.000	T
BEST4	266675	genome.wustl.edu	37	1	45253071	45253071	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:45253071C>T	ENST00000372207.3	-	2	219	c.220G>A	c.(220-222)Gac>Aac	p.D74N		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	74						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GGAATGAGGTCTGCTGAGCGG	0.572																																																	0													224.0	225.0	225.0					1																	45253071		2203	4300	6503	SO:0001583	missense	266675			AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.220G>A	1.37:g.45253071C>T	ENSP00000361281:p.Asp74Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JR93	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.D74N	ENST00000372207.3	37	c.220	CCDS514.1	1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245381	0.22796	.	.	ENSG00000142959	ENST00000372207	D	0.98345	-4.88	5.0	4.09	0.47781	.	0.163679	0.52532	D	0.000068	D	0.93916	0.8053	N	0.21448	0.665	0.36855	D	0.88811	B	0.09022	0.002	B	0.17979	0.02	D	0.90064	0.4158	10	0.06365	T	0.9	-13.6823	11.7118	0.51628	0.0:0.9122:0.0:0.0878	.	74	Q8NFU0	BEST4_HUMAN	N	74	ENSP00000361281:D74N	ENSP00000361281:D74N	D	-	1	0	BEST4	45025658	0.996000	0.38824	0.857000	0.33713	0.820000	0.46376	3.239000	0.51360	1.236000	0.43740	-0.254000	0.11334	GAC	BEST4	-	pfam_Bestrophin/UPF0187		0.572	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST4	HGNC	protein_coding	OTTHUMT00000023425.1	C	NM_153274		45253071	-1	no_errors	ENST00000372207	ensembl	human	known	70_37	missense	SNP	0.986	T
BRPF3	27154	genome.wustl.edu	37	6	36179145	36179145	+	Missense_Mutation	SNP	C	C	T	rs530180349		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:36179145C>T	ENST00000357641.6	+	7	2543	c.2290C>T	c.(2290-2292)Cgc>Tgc	p.R764C	BRPF3_ENST00000543502.1_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000534400.1_Missense_Mutation_p.R764C|BRPF3_ENST00000339717.7_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	764					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAGTGGGGCCCGCACCCGTCG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17276	0.0		0.0	False		,,,				2504	0.001																0													34.0	34.0	34.0					6																	36179145		2203	4300	6503	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.2290C>T	6.37:g.36179145C>T	ENSP00000350267:p.Arg764Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.R764C	ENST00000357641.6	37	c.2290	CCDS34437.1	6	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796472	0.70567	.	.	ENSG00000096070	ENST00000357641;ENST00000534400;ENST00000394572	D;D	0.88277	-2.36;-2.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94175	0.8131	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	D	0.94318	0.7551	10	0.87932	D	0	.	19.7068	0.96076	0.0:1.0:0.0:0.0	.	764	Q9ULD4	BRPF3_HUMAN	C	764;764;178	ENSP00000350267:R764C;ENSP00000436504:R764C	ENSP00000350267:R764C	R	+	1	0	BRPF3	36287123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.050000	0.49877	2.650000	0.89964	0.591000	0.81541	CGC	BRPF3	-	NULL		0.632	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	C	NM_015695		36179145	+1	no_errors	ENST00000357641	ensembl	human	known	70_37	missense	SNP	1.000	T
BTRC	8945	genome.wustl.edu	37	10	103190136	103190136	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:103190136C>G	ENST00000370187.3	+	2	201	c.83C>G	c.(82-84)tCc>tGc	p.S28C	BTRC_ENST00000393441.4_Missense_Mutation_p.S13C|BTRC_ENST00000408038.2_Intron	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGGGCTGCTCCAGCCTGGCG	0.537																																																	0													83.0	78.0	80.0					10																	103190136		2203	4300	6503	SO:0001583	missense	8945			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.83C>G	10.37:g.103190136C>G	ENSP00000359206:p.Ser28Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S28C	ENST00000370187.3	37	c.83	CCDS7512.1	10	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895274	0.72639	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000370183	T;T	0.69040	-0.36;-0.37	5.72	5.72	0.89469	.	0.163737	0.44483	D	0.000444	T	0.68366	0.2993	N	0.08118	0	0.53005	D	0.999963	P;P	0.46578	0.838;0.88	B;D	0.64237	0.258;0.923	T	0.72924	-0.4144	10	0.51188	T	0.08	-9.6945	20.2406	0.98372	0.0:1.0:0.0:0.0	.	28;28	B7Z3H4;Q9Y297	.;FBW1A_HUMAN	C	28;13;10	ENSP00000359206:S28C;ENSP00000377088:S13C	ENSP00000359202:S10C	S	+	2	0	BTRC	103180126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.631000	0.67812	2.857000	0.98124	0.650000	0.86243	TCC	BTRC	-	NULL		0.537	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	HGNC	protein_coding	OTTHUMT00000049936.1	C	NM_033637		103190136	+1	no_errors	ENST00000370187	ensembl	human	known	70_37	missense	SNP	1.000	G
C14orf93	60686	genome.wustl.edu	37	14	23467958	23467958	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:23467958C>T	ENST00000299088.6	-	2	704	c.275G>A	c.(274-276)cGt>cAt	p.R92H	C14orf93_ENST00000341470.4_Missense_Mutation_p.R92H|C14orf93_ENST00000406429.2_Missense_Mutation_p.R92H|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397379.3_Missense_Mutation_p.R92H|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397382.4_Missense_Mutation_p.R92H|C14orf93_ENST00000397377.1_Intron|RP11-298I3.4_ENST00000556503.1_RNA	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	92						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CTCCTGGAGACGTTTTAACAA	0.562																																																	0													57.0	53.0	55.0					14																	23467958		2203	4300	6503	SO:0001583	missense	60686			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.275G>A	14.37:g.23467958C>T	ENSP00000299088:p.Arg92His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	NULL	p.R92H	ENST00000299088.6	37	c.275	CCDS9583.1	14	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420654	0.62622	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931;ENST00000555575	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.7	2.71	0.32032	.	0.197682	0.34700	N	0.003755	T	0.29355	0.0731	N	0.24115	0.695	0.24556	N	0.993995	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.20840	-1.0263	10	0.72032	D	0.01	-21.2077	5.3472	0.16016	0.0:0.606:0.1481:0.2459	.	92;92	Q9H972;Q9H972-2	CN093_HUMAN;.	H	92	ENSP00000299088:R92H;ENSP00000341353:R92H;ENSP00000380535:R92H;ENSP00000380538:R92H;ENSP00000384768:R92H;ENSP00000380536:R92H;ENSP00000450771:R92H;ENSP00000452036:R92H;ENSP00000451111:R92H	ENSP00000299088:R92H	R	-	2	0	C14orf93	22537798	0.879000	0.30193	0.946000	0.38457	0.996000	0.88848	1.179000	0.31993	0.750000	0.32877	0.561000	0.74099	CGT	C14orf93	-	NULL		0.562	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf93	HGNC	protein_coding	OTTHUMT00000071688.5	C	NM_021944		23467958	-1	no_errors	ENST00000299088	ensembl	human	known	70_37	missense	SNP	0.880	T
C17orf70	80233	genome.wustl.edu	37	17	79514520	79514520	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:79514520C>T	ENST00000327787.8	-	5	1634	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	C17orf70_ENST00000537152.1_Missense_Mutation_p.E379K|C17orf70_ENST00000425898.2_Missense_Mutation_p.E179K			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	530					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGCTGTTCTCTAGCACGCAG	0.652																																																	0													103.0	89.0	94.0					17																	79514520		2203	4300	6503	SO:0001583	missense	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1588G>A	17.37:g.79514520C>T	ENSP00000333283:p.Glu530Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.E530K	ENST00000327787.8	37	c.1588	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	C	10.96	1.498979	0.26861	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000537152	T;T;T	0.52295	0.67;0.67;0.67	4.37	-0.323	0.12709	.	0.508491	0.18919	N	0.127535	T	0.44244	0.1284	M	0.64997	1.995	0.39516	D	0.968438	B;B	0.26809	0.069;0.16	B;B	0.31337	0.05;0.128	T	0.44498	-0.9324	10	0.72032	D	0.01	.	10.4315	0.44411	0.137:0.4307:0.4323:0.0	.	530;179	Q0VG06;E7EVV8	FP100_HUMAN;.	K	530;179;379	ENSP00000333283:E530K;ENSP00000399674:E179K;ENSP00000440151:E379K	ENSP00000333283:E530K	E	-	1	0	C17orf70	77124973	0.470000	0.25854	0.027000	0.17364	0.030000	0.12068	0.238000	0.18004	-0.164000	0.10927	0.561000	0.74099	GAG	C17orf70	-	NULL		0.652	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	C	NM_025161		79514520	-1	no_errors	ENST00000327787	ensembl	human	known	70_37	missense	SNP	0.972	T
C1QTNF4	114900	genome.wustl.edu	37	11	47611686	47611686	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:47611686G>A	ENST00000302514.3	-	2	1193	c.677C>T	c.(676-678)cCc>cTc	p.P226L		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	226	C1q 2. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GTAGGCGCCGGGCAGACGGCA	0.652																																																	0													10.0	14.0	13.0					11																	47611686		2152	4279	6431	SO:0001583	missense	114900			AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 4"""	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.677C>T	11.37:g.47611686G>A	ENSP00000302274:p.Pro226Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IV25	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.P226L	ENST00000302514.3	37	c.677	CCDS7942.1	11	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717040	0.89205	.	.	ENSG00000172247	ENST00000302514	D	0.87412	-2.25	4.32	4.32	0.51571	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.065956	0.64402	U	0.000008	D	0.94863	0.8340	M	0.92691	3.335	0.58432	D	0.999998	D	0.76494	0.999	D	0.73708	0.981	D	0.96366	0.9270	10	0.87932	D	0	.	17.1695	0.86826	0.0:0.0:1.0:0.0	.	226	Q9BXJ3	C1QT4_HUMAN	L	226	ENSP00000302274:P226L	ENSP00000302274:P226L	P	-	2	0	C1QTNF4	47568262	1.000000	0.71417	0.986000	0.45419	0.760000	0.43138	7.743000	0.85020	2.086000	0.62901	0.462000	0.41574	CCC	C1QTNF4	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q		0.652	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF4	HGNC	protein_coding	OTTHUMT00000391772.1	G	NM_031909		47611686	-1	no_errors	ENST00000302514	ensembl	human	known	70_37	missense	SNP	0.999	A
C1orf112	55732	genome.wustl.edu	37	1	169806079	169806079	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:169806079C>T	ENST00000286031.6	+	17	2251	c.1551C>T	c.(1549-1551)atC>atT	p.I517I	C1orf112_ENST00000359326.4_Silent_p.I517I|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	517										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGAGTTTATCCAGAAATTTT	0.388																																																	0													44.0	44.0	44.0					1																	169806079		2203	4300	6503	SO:0001819	synonymous_variant	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1551C>T	1.37:g.169806079C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	NULL	p.I517	ENST00000286031.6	37	c.1551	CCDS1285.1	1																																																																																			C1orf112	-	NULL		0.388	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	C	NM_018186		169806079	+1	no_errors	ENST00000286031	ensembl	human	known	70_37	silent	SNP	1.000	T
CCDC185	164127	genome.wustl.edu	37	1	223567621	223567621	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:223567621G>A	ENST00000366875.3	+	1	907	c.804G>A	c.(802-804)aaG>aaA	p.K268K		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		268										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCCGTCTCAAGAAGGCCCAGA	0.642																																																	0													24.0	25.0	25.0					1																	223567621		2202	4300	6502	SO:0001819	synonymous_variant	164127																														ENST00000366875.3:c.804G>A	1.37:g.223567621G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N746|Q8NA93	Silent	SNP	NULL	p.K268	ENST00000366875.3	37	c.804	CCDS1537.1	1																																																																																			C1orf65	-	NULL		0.642	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	HGNC	protein_coding	OTTHUMT00000092718.1	G			223567621	+1	no_errors	ENST00000366875	ensembl	human	known	70_37	silent	SNP	0.586	A
GNPAT	8443	genome.wustl.edu	37	1	231374798	231374798	+	5'Flank	SNP	C	C	T	rs111900716	byFrequency	TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:231374798C>T	ENST00000366647.4	+	0	0				GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000366649.2_Silent_p.K85K|C1orf131_ENST00000366651.3_Silent_p.K85K|C1orf131_ENST00000318906.2_Silent_p.K85K|C1orf131_ENST00000471936.1_5'UTR	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCGAAGCGCTCTTCCTCTGGC	0.532																																																	0													79.0	75.0	76.0					1																	231374798		2203	4300	6503	SO:0001631	upstream_gene_variant	128061			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231374798C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	NULL	p.K85	ENST00000366647.4	37	c.255	CCDS1592.1	1																																																																																			C1orf131	-	NULL		0.532	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf131	HGNC	protein_coding	OTTHUMT00000092871.1	C			231374798	-1	no_errors	ENST00000366649	ensembl	human	known	70_37	silent	SNP	0.993	T
STKLD1	169436	genome.wustl.edu	37	9	136243391	136243391	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:136243391G>C	ENST00000371957.3	+	1	154	c.47G>C	c.(46-48)cGa>cCa	p.R16P	SURF4_ENST00000371991.3_5'Flank|C9orf96_ENST00000371955.1_5'UTR|SURF4_ENST00000545297.1_5'Flank|SURF4_ENST00000467910.1_5'Flank|SURF4_ENST00000485435.2_5'Flank|C9orf96_ENST00000426926.2_Missense_Mutation_p.R16P|SURF4_ENST00000371989.3_5'Flank	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		16							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAGGGGGAGCGAGGCCCAGGG	0.711																																																	0													17.0	21.0	19.0					9																	136243391		2188	4291	6479	SO:0001583	missense	169436																														ENST00000371957.3:c.47G>C	9.37:g.136243391G>C	ENSP00000361025:p.Arg16Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R16P	ENST00000371957.3	37	c.47	CCDS35169.1	9	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023313	0.54683	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T	0.69561	-0.41	3.2	2.26	0.28386	Protein kinase-like domain (1);	.	.	.	.	T	0.45736	0.1357	L	0.34521	1.04	0.22610	N	0.998936	P	0.44281	0.831	B	0.28232	0.087	T	0.24440	-1.0160	9	0.42905	T	0.14	1.692	7.9273	0.29883	0.0:0.0:0.753:0.247	.	16	Q8NE28	SGK71_HUMAN	P	16	ENSP00000361025:R16P	ENSP00000361025:R16P	R	+	2	0	C9orf96	135233212	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.356000	0.20181	0.604000	0.29930	0.591000	0.81541	CGA	C9orf96	-	superfamily_Kinase-like_dom		0.711	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	HGNC	protein_coding	OTTHUMT00000054855.1	G			136243391	+1	no_errors	ENST00000371957	ensembl	human	known	70_37	missense	SNP	0.001	C
CACNA1B	774	genome.wustl.edu	37	9	140807659	140807659	+	Silent	SNP	C	C	T	rs565401082		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:140807659C>T	ENST00000371372.1	+	4	703	c.558C>T	c.(556-558)ttC>ttT	p.F186F	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.F186F|CACNA1B_ENST00000371357.1_Silent_p.F186F|CACNA1B_ENST00000371355.4_Silent_p.F186F|CACNA1B_ENST00000277551.2_Silent_p.F186F	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	186					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GAACTGACTTCGACCTGCGAA	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		22442	0.0		0.0	False		,,,				2504	0.001																0													69.0	73.0	72.0					9																	140807659		2110	4218	6328	SO:0001819	synonymous_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.558C>T	9.37:g.140807659C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.F186	ENST00000371372.1	37	c.558	CCDS59522.1	9																																																																																			CACNA1B	-	pfam_Ion_trans_dom		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	C	NM_000718		140807659	+1	no_errors	ENST00000371355	ensembl	human	known	70_37	silent	SNP	0.907	T
CACNA1E	777	genome.wustl.edu	37	1	181453069	181453069	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:181453069C>T	ENST00000367573.2	+	1	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Silent_p.F14F|CACNA1E_ENST00000367570.1_Silent_p.F63F|CACNA1E_ENST00000360108.3_Silent_p.F63F|CACNA1E_ENST00000357570.5_Silent_p.F14F|CACNA1E_ENST00000526775.1_Silent_p.F63F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	63					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGAACTGTTTCACCGTCAACA	0.537																																																	0													131.0	137.0	135.0					1																	181453069		1920	4127	6047	SO:0001819	synonymous_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.189C>T	1.37:g.181453069C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.F63	ENST00000367573.2	37	c.189	CCDS55664.1	1																																																																																			CACNA1E	-	NULL		0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	C	NM_000721		181453069	+1	no_errors	ENST00000367573	ensembl	human	known	70_37	silent	SNP	1.000	T
CACNA2D3	55799	genome.wustl.edu	37	3	54604082	54604082	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:54604082C>G	ENST00000474759.1	+	8	887	c.839C>G	c.(838-840)tCa>tGa	p.S280*	CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.S280*|CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.S186*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.S280*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	280	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CAAACAGTCTCATCCATTTTG	0.448																																																	0													215.0	206.0	209.0					3																	54604082		2026	4191	6217	SO:0001587	stop_gained	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.839C>G	3.37:g.54604082C>G	ENSP00000419101:p.Ser280*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPL6|Q9NY16|Q9NY18	Nonsense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S280*	ENST00000474759.1	37	c.839	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.338336	0.97485	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	15.0641	0.71980	0.0:0.8585:0.1415:0.0	.	.	.	.	X	280;280;280;186;186;185	.	ENSP00000288197:S280X	S	+	2	0	CACNA2D3	54579122	1.000000	0.71417	0.984000	0.44739	0.962000	0.63368	5.911000	0.69939	2.701000	0.92244	0.644000	0.83932	TCA	CACNA2D3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.448	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	C			54604082	+1	no_errors	ENST00000288197	ensembl	human	known	70_37	nonsense	SNP	0.813	G
CADPS	8618	genome.wustl.edu	37	3	62385197	62385197	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:62385197C>G	ENST00000383710.4	-	30	4295	c.3946G>C	c.(3946-3948)Gaa>Caa	p.E1316Q	CADPS_ENST00000357948.3_Missense_Mutation_p.E1237Q|CADPS_ENST00000283269.9_Missense_Mutation_p.E1277Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1316	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CGGATCGTTTCATAGGTCTTG	0.498																																																	0													174.0	153.0	160.0					3																	62385197		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3946G>C	3.37:g.62385197C>G	ENSP00000373215:p.Glu1316Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1316Q	ENST00000383710.4	37	c.3946	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.712|2.712	-0.268485|-0.268485	0.05716|0.05716	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000473635	T;T;T|.	0.30981|.	1.51;1.51;1.51|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.114745|.	0.64402|.	D|.	0.000017|.	T|T	0.53786|0.53786	0.1818|0.1818	N|N	0.16233|0.16233	0.39|0.39	0.80722|0.80722	D|D	1|1	B;B;P;B|.	0.47106|.	0.078;0.449;0.89;0.057|.	B;B;B;B|.	0.37888|.	0.055;0.26;0.202;0.037|.	T|T	0.45818|0.45818	-0.9235|-0.9235	10|5	0.02654|.	T|.	1|.	.|.	20.2019|20.2019	0.98263|0.98263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1237;1277;1316;1321|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	Q|I	1322;1316;1237;1277|307	ENSP00000373215:E1316Q;ENSP00000350632:E1237Q;ENSP00000283269:E1277Q|.	ENSP00000283269:E1277Q|.	E|M	-|-	1|3	0|0	CADPS|CADPS	62360237|62360237	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.305000|0.305000	0.27757|0.27757	7.487000|7.487000	0.81328|0.81328	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	GAA|ATG	CADPS	-	NULL		0.498	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62385197	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	1.000	G
CAMK4	814	genome.wustl.edu	37	5	110814092	110814092	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:110814092G>C	ENST00000282356.4	+	9	1113	c.715G>C	c.(715-717)Gaa>Caa	p.E239Q	CAMK4_ENST00000512453.1_Missense_Mutation_p.E239Q	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTGTGGATTTGAACCATTCTA	0.338																																																	0													95.0	101.0	99.0					5																	110814092		2202	4300	6502	SO:0001583	missense	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.715G>C	5.37:g.110814092G>C	ENSP00000282356:p.Glu239Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSZ7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E239Q	ENST00000282356.4	37	c.715	CCDS4103.1	5	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977925	0.92982	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.49139	0.79;0.79	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56262	0.1973	N	0.17082	0.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56402	-0.7985	10	0.40728	T	0.16	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	239	Q16566	KCC4_HUMAN	Q	239	ENSP00000422634:E239Q;ENSP00000282356:E239Q	ENSP00000282356:E239Q	E	+	1	0	CAMK4	110841991	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.376000	0.97181	2.793000	0.96121	0.591000	0.81541	GAA	CAMK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.338	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK4	HGNC	protein_coding	OTTHUMT00000250719.2	G	NM_001744		110814092	+1	no_errors	ENST00000282356	ensembl	human	known	70_37	missense	SNP	1.000	C
CAMSAP1	157922	genome.wustl.edu	37	9	138710293	138710293	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:138710293C>G	ENST00000389532.4	-	13	4193	c.4129G>C	c.(4129-4131)Gag>Cag	p.E1377Q	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E1388Q|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E1099Q|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1377					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGCACGACTCTTCCCGGTGC	0.682																																																	0													35.0	36.0	35.0					9																	138710293		2203	4299	6502	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.4129G>C	9.37:g.138710293C>G	ENSP00000374183:p.Glu1377Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E1388Q	ENST00000389532.4	37	c.4162	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	34	5.385884	0.95967	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15834	2.39;2.39;2.39	5.44	5.44	0.79542	.	0.046947	0.85682	N	0.000000	T	0.42426	0.1202	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.937;0.964	T	0.28235	-1.0050	10	0.87932	D	0	-3.0357	19.2712	0.94010	0.0:1.0:0.0:0.0	.	1377;1388	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	1377;1099;1388	ENSP00000374183:E1377Q;ENSP00000312463:E1099Q;ENSP00000386420:E1388Q	ENSP00000312463:E1099Q	E	-	1	0	CAMSAP1	137850114	1.000000	0.71417	0.745000	0.31077	0.977000	0.68977	7.513000	0.81739	2.555000	0.86185	0.655000	0.94253	GAG	CAMSAP1	-	NULL		0.682	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	C	XM_351857		138710293	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	1.000	G
CAPRIN2	65981	genome.wustl.edu	37	12	30881633	30881633	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:30881633G>A	ENST00000395805.2	-	8	2278	c.1731C>T	c.(1729-1731)ctC>ctT	p.L577L	CAPRIN2_ENST00000298892.5_Silent_p.L577L|CAPRIN2_ENST00000308433.5_Silent_p.L244L|CAPRIN2_ENST00000417045.1_Silent_p.L577L|CAPRIN2_ENST00000251071.5_Silent_p.L577L|CAPRIN2_ENST00000538387.1_5'UTR	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATTTGGTATGAGGCTTGCTG	0.428																																																	0													143.0	132.0	136.0					12																	30881633		2203	4300	6503	SO:0001819	synonymous_variant	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1731C>T	12.37:g.30881633G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L577	ENST00000395805.2	37	c.1731	CCDS55816.1	12																																																																																			CAPRIN2	-	NULL		0.428	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	G	NM_023925		30881633	-1	no_errors	ENST00000251071	ensembl	human	known	70_37	silent	SNP	0.685	A
CARD11	84433	genome.wustl.edu	37	7	2979475	2979475	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:2979475C>T	ENST00000396946.4	-	6	1175	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	258					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCCGATTTTCAATGTCATTC	0.473			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													169.0	159.0	163.0					7																	2979475		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.772G>A	7.37:g.2979475C>T	ENSP00000380150:p.Glu258Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.E258K	ENST00000396946.4	37	c.772	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	35	5.475283	0.96291	.	.	ENSG00000198286	ENST00000396946	T	0.35236	1.32	5.67	5.67	0.87782	.	0.050900	0.85682	D	0.000000	T	0.40094	0.1103	L	0.29908	0.895	0.80722	D	1	P	0.50943	0.94	P	0.48901	0.594	T	0.23868	-1.0176	10	0.66056	D	0.02	-26.4004	19.836	0.96658	0.0:1.0:0.0:0.0	.	258	Q9BXL7	CAR11_HUMAN	K	258	ENSP00000380150:E258K	ENSP00000380150:E258K	E	-	1	0	CARD11	2946001	1.000000	0.71417	0.952000	0.39060	0.979000	0.70002	7.234000	0.78134	2.690000	0.91761	0.579000	0.79373	GAA	CARD11	-	NULL		0.473	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	C	NM_032415		2979475	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	missense	SNP	1.000	T
CBLB	868	genome.wustl.edu	37	3	105397350	105397350	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:105397350G>A	ENST00000264122.4	-	17	2815	c.2494C>T	c.(2494-2496)Ctc>Ttc	p.L832F	CBLB_ENST00000407712.1_Missense_Mutation_p.L47F|CBLB_ENST00000394027.3_Missense_Mutation_p.L810F	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	832	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTTCAATGAGACTATGCCTT	0.493			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													77.0	76.0	76.0					3																	105397350		2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2494C>T	3.37:g.105397350G>A	ENSP00000264122:p.Leu832Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.L832F	ENST00000264122.4	37	c.2494	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158582	0.38119	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;D;T;D	0.86097	-1.1;-2.07;-1.13;-1.82	5.94	5.07	0.68467	.	0.280773	0.41194	D	0.000934	T	0.72112	0.3420	N	0.08118	0	0.80722	D	1	B;B;B	0.29085	0.232;0.0;0.001	B;B;B	0.30179	0.112;0.001;0.002	T	0.72789	-0.4187	10	0.87932	D	0	-9.7712	11.309	0.49353	0.0:0.2373:0.6253:0.1374	.	810;832;810	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	F	171;832;47;810	ENSP00000377598:L171F;ENSP00000264122:L832F;ENSP00000384170:L47F;ENSP00000377595:L810F	ENSP00000264122:L832F	L	-	1	0	CBLB	106880040	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.131000	0.42074	1.515000	0.48885	0.650000	0.86243	CTC	CBLB	-	NULL		0.493	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	G	NM_170662		105397350	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	missense	SNP	1.000	A
CBWD1	55871	genome.wustl.edu	37	9	173313	173313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:173313C>A	ENST00000356521.4	-	3	383	c.295G>T	c.(295-297)Gag>Tag	p.E99*	CBWD1_ENST00000382389.1_Nonsense_Mutation_p.E63*|CBWD1_ENST00000377447.3_Nonsense_Mutation_p.E99*|CBWD1_ENST00000314367.10_Nonsense_Mutation_p.E63*|CBWD1_ENST00000382393.1_Nonsense_Mutation_p.E99*|CBWD1_ENST00000377400.4_Nonsense_Mutation_p.E99*|CBWD1_ENST00000431099.2_Nonsense_Mutation_p.E63*|CBWD1_ENST00000382447.4_Nonsense_Mutation_p.E99*	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	99							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCAGCCACTCTTCATAGAGC	0.403																																																	0													4.0	5.0	5.0					9																	173313		1654	3695	5349	SO:0001587	stop_gained	55871			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.295G>T	9.37:g.173313C>A	ENSP00000348915:p.Glu99*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Nonsense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C	p.E99*	ENST00000356521.4	37	c.295	CCDS6438.1	9	.	.	.	.	.	.	.	.	.	.	.	37	6.025710	0.97216	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347;ENST00000417415;ENST00000382393;ENST00000382389	.	.	.	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.0172	16.2016	0.82087	0.0:1.0:0.0:0.0	.	.	.	.	X	99;99;99;63;99;63;99;99;99;63	.	ENSP00000323433:E63X	E	-	1	0	CBWD1	163313	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.718000	0.74713	2.125000	0.65367	0.479000	0.44913	GAG	CBWD1	-	pfam_CobW/HypB/UreG_dom		0.403	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	HGNC	protein_coding	OTTHUMT00000051463.1	C	NM_018491		173313	-1	no_errors	ENST00000356521	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CCDC73	493860	genome.wustl.edu	37	11	32720835	32720835	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:32720835C>G	ENST00000335185.5	-	6	395	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	CCDC73_ENST00000531481.1_Missense_Mutation_p.E118Q|CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	118										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CCTTCTATTTCTTTTTCCTTT	0.244																																																	0													126.0	112.0	116.0					11																	32720835		1773	4053	5826	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.352G>C	11.37:g.32720835C>G	ENSP00000335325:p.Glu118Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	NULL	p.E118Q	ENST00000335185.5	37	c.352	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430888	0.83776	.	.	ENSG00000186714	ENST00000335185;ENST00000531481	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	T	0.73110	0.3545	L	0.56769	1.78	0.35145	D	0.769214	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.997;0.998	T	0.77035	-0.2737	8	0.41790	T	0.15	.	17.3779	0.87397	0.0:1.0:0.0:0.0	.	118;118;118	A6H8Y7;Q6ZRK6-2;Q6ZRK6	.;.;CCD73_HUMAN	Q	118	.	ENSP00000335325:E118Q	E	-	1	0	CCDC73	32677411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.579000	0.60936	2.713000	0.92767	0.655000	0.94253	GAA	CCDC73	-	NULL		0.244	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	C	NM_001008391		32720835	-1	no_errors	ENST00000335185	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC87	55231	genome.wustl.edu	37	11	66360384	66360384	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:66360384G>C	ENST00000333861.3	-	1	170	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'UTR	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	35					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGGCGCTTCTGAGGCTCTGGG	0.687											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													17.0	20.0	19.0					11																	66360384		2071	4037	6108	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.103C>G	11.37:g.66360384G>C	ENSP00000328487:p.Gln35Glu	Somatic	1091	WXS	Illumina HiSeq	Phase_IV	Q8NE76	Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.Q35E	ENST00000333861.3	37	c.103	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	G	0.160	-1.082535	0.01888	.	.	ENSG00000182791	ENST00000333861	T	0.27720	1.65	5.18	5.18	0.71444	.	0.814715	0.10514	N	0.665766	T	0.15955	0.0384	N	0.17082	0.46	0.80722	D	1	P	0.38535	0.635	B	0.29785	0.107	T	0.06232	-1.0838	10	0.02654	T	1	-4.502	14.0614	0.64802	0.0:0.0:1.0:0.0	.	35	Q9NVE4	CCD87_HUMAN	E	35	ENSP00000328487:Q35E	ENSP00000328487:Q35E	Q	-	1	0	CCDC87	66116960	0.065000	0.20965	0.028000	0.17463	0.098000	0.18820	2.231000	0.43009	2.698000	0.92095	0.655000	0.94253	CAG	CCDC87	-	NULL		0.687	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	G	NM_018219		66360384	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	missense	SNP	0.034	C
CCDC93	54520	genome.wustl.edu	37	2	118694294	118694294	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:118694294G>T	ENST00000376300.2	-	21	1764	c.1627C>A	c.(1627-1629)Cat>Aat	p.H543N	CCDC93_ENST00000319432.5_Missense_Mutation_p.H542N|HTR5BP_ENST00000434708.1_RNA	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	543										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AAGTTCTCATGAATTGAGTTC	0.443																																																	0													160.0	167.0	164.0					2																	118694294		2203	4300	6503	SO:0001583	missense	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1627C>A	2.37:g.118694294G>T	ENSP00000365477:p.His543Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	pfam_DUF2037	p.H543N	ENST00000376300.2	37	c.1627	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825739	0.90955	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.68765	-0.35;-0.35	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	M	0.61703	1.905	0.58432	D	0.999998	D	0.55605	0.972	P	0.52672	0.706	T	0.68538	-0.5382	10	0.22706	T	0.39	-17.9745	18.3987	0.90509	0.0:0.0:1.0:0.0	.	543	Q567U6	CCD93_HUMAN	N	543;542	ENSP00000365477:H543N;ENSP00000324135:H542N	ENSP00000324135:H542N	H	-	1	0	CCDC93	118410764	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.403000	0.73264	2.785000	0.95823	0.655000	0.94253	CAT	CCDC93	-	NULL		0.443	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	G	NM_019044		118694294	-1	no_errors	ENST00000376300	ensembl	human	known	70_37	missense	SNP	1.000	T
CD248	57124	genome.wustl.edu	37	11	66082697	66082697	+	Missense_Mutation	SNP	G	G	C	rs151151894		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:66082697G>C	ENST00000311330.3	-	1	1818	c.1802C>G	c.(1801-1803)tCt>tGt	p.S601C	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	601	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						ATGGGCAGGAGACACAGGGGA	0.637																																																	0													102.0	118.0	113.0					11																	66082697		2200	4295	6495	SO:0001583	missense	57124			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1802C>G	11.37:g.66082697G>C	ENSP00000308117:p.Ser601Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_C-type_lectin	p.S601C	ENST00000311330.3	37	c.1802	CCDS8134.1	11	.	.	.	.	.	.	.	.	.	.	G	5.130	0.209633	0.09757	.	.	ENSG00000174807	ENST00000311330	D	0.87412	-2.25	3.37	1.3	0.21679	.	1.848380	0.05101	U	0.487152	T	0.69655	0.3135	N	0.08118	0	0.09310	N	1	P	0.42785	0.79	B	0.31751	0.135	T	0.65981	-0.6036	10	0.46703	T	0.11	.	4.0001	0.09576	0.1329:0.0:0.637:0.23	.	601	Q9HCU0	CD248_HUMAN	C	601	ENSP00000308117:S601C	ENSP00000308117:S601C	S	-	2	0	CD248	65839273	0.005000	0.15991	0.002000	0.10522	0.348000	0.29142	-0.304000	0.08199	0.614000	0.30107	0.460000	0.39030	TCT	CD248	-	NULL		0.637	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD248	HGNC	protein_coding	OTTHUMT00000392922.2	G	NM_020404		66082697	-1	no_errors	ENST00000311330	ensembl	human	known	70_37	missense	SNP	0.037	C
CD79A	973	genome.wustl.edu	37	19	42381419	42381419	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:42381419C>G	ENST00000221972.3	+	1	230	c.45C>G	c.(43-45)atC>atG	p.I15M	CD79A_ENST00000444740.2_Missense_Mutation_p.I15M	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	15					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						CTGCCACCATCTTCCTCCTCT	0.607			"""O, S"""		DLBCL																																			Dom	yes		19	19q13.2	973	"""CD79a molecule, immunoglobulin-associated alpha"""		L	0													185.0	140.0	155.0					19																	42381419		2203	4300	6503	SO:0001583	missense	973			M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.45C>G	19.37:g.42381419C>G	ENSP00000221972:p.Ile15Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0N775|Q53FB8	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like	p.I15M	ENST00000221972.3	37	c.45	CCDS12589.1	19	.	.	.	.	.	.	.	.	.	.	C	5.763	0.325190	0.10900	.	.	ENSG00000105369	ENST00000221972;ENST00000444740	T	0.78481	-1.18	2.77	0.524	0.17066	.	1.356410	0.05219	N	0.508239	T	0.61961	0.2389	N	0.19112	0.55	0.09310	N	1	P;P	0.40476	0.718;0.718	B;B	0.36808	0.233;0.181	T	0.55211	-0.8176	10	0.49607	T	0.09	-8.4673	5.3577	0.16071	0.2341:0.5385:0.2274:0.0	.	15;15	P11912;A0N775	CD79A_HUMAN;.	M	15	ENSP00000221972:I15M	ENSP00000221972:I15M	I	+	3	3	CD79A	47073259	0.010000	0.17322	0.002000	0.10522	0.054000	0.15201	1.290000	0.33319	0.243000	0.21327	-1.685000	0.00733	ATC	CD79A	-	NULL		0.607	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD79A	HGNC	protein_coding	OTTHUMT00000463058.1	C			42381419	+1	no_errors	ENST00000221972	ensembl	human	known	70_37	missense	SNP	0.003	G
CD99L2	83692	genome.wustl.edu	37	X	149999752	149999752	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:149999752C>G	ENST00000370377.3	-	2	199	c.82G>C	c.(82-84)Gat>Cat	p.D28H	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Missense_Mutation_p.D28H|CD99L2_ENST00000466436.1_Missense_Mutation_p.D28H|CD99L2_ENST00000355149.3_Missense_Mutation_p.D28H|CD99L2_ENST00000320893.6_Missense_Mutation_p.D28H	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	28					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTAAAATCATCAAAGTCCCCA	0.289																																																	0													81.0	77.0	78.0					X																	149999752		2203	4300	6503	SO:0001583	missense	83692			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.82G>C	X.37:g.149999752C>G	ENSP00000359403:p.Asp28His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	pfam_CD99L2	p.D28H	ENST00000370377.3	37	c.82	CCDS35427.1	X	.	.	.	.	.	.	.	.	.	.	C	9.236	1.037093	0.19669	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000437787;ENST00000466436;ENST00000320893	T	0.30981	1.51	4.28	0.113	0.14631	.	0.870138	0.09917	N	0.738937	T	0.30510	0.0767	L	0.48642	1.525	0.09310	N	1	B;B;B;B	0.28850	0.225;0.06;0.06;0.119	B;B;B;B	0.42959	0.403;0.134;0.134;0.102	T	0.47873	-0.9083	9	.	.	.	-1.8008	2.9646	0.05903	0.2334:0.3569:0.0:0.4098	.	28;28;28;28	E9PD27;Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;.;C99L2_HUMAN	H	28	ENSP00000394858:D28H	.	D	-	1	0	CD99L2	149750410	0.000000	0.05858	0.000000	0.03702	0.275000	0.26752	0.023000	0.13533	-0.015000	0.14150	-0.190000	0.12839	GAT	CD99L2	-	NULL		0.289	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	C	NM_031462		149999752	-1	no_errors	ENST00000370377	ensembl	human	known	70_37	missense	SNP	0.000	G
CDH2	1000	genome.wustl.edu	37	18	25565688	25565688	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:25565688G>A	ENST00000269141.3	-	12	2202	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	CDH2_ENST00000399380.3_Silent_p.I562I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	593	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAAGTAAATAGATCTGCAGCG	0.408																																																	0													80.0	84.0	83.0					18																	25565688		2203	4300	6503	SO:0001819	synonymous_variant	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1779C>T	18.37:g.25565688G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.I593	ENST00000269141.3	37	c.1779	CCDS11891.1	18																																																																																			CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.408	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	G	NM_001792		25565688	-1	no_errors	ENST00000269141	ensembl	human	known	70_37	silent	SNP	1.000	A
CDH23	64072	genome.wustl.edu	37	10	73556641	73556642	+	3'UTR	INS	-	-	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:73556641_73556642insC	ENST00000475158.1	+	0	29_30				CDH23_ENST00000224721.6_Intron|CDH23_ENST00000398788.3_Intron			Q9H251	CAD23_HUMAN	cadherin-related 23						calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						tgacataacttccccaacatca	0.49																																																	0																																										SO:0001624	3_prime_UTR_variant	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000475158.1:c.*27->C	10.37:g.73556645_73556645dupC		Somatic		WXS	Illumina HiSeq	Phase_IV	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	RNA	INS	-	NULL	ENST00000475158.1	37	NULL		10																																																																																			CDH23	-	-		0.490	CDH23-008	KNOWN	basic	processed_transcript	CDH23	HGNC	protein_coding	OTTHUMT00000051234.1	-	NM_052836		73556642	+1	no_errors	ENST00000475158	ensembl	human	known	70_37	rna	INS	0.000:0.000	C
CDH8	1006	genome.wustl.edu	37	16	61855002	61855002	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:61855002G>A	ENST00000577390.1	-	6	1805	c.851C>T	c.(850-852)tCa>tTa	p.S284L	CDH8_ENST00000299345.6_Missense_Mutation_p.S284L|CDH8_ENST00000577730.1_Missense_Mutation_p.S284L|CDH8_ENST00000584337.1_Missense_Mutation_p.S284L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	284	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTCCGGTACTGAGAAGTGATA	0.408																																																	0													85.0	68.0	74.0					16																	61855002		2203	4300	6503	SO:0001583	missense	1006			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.851C>T	16.37:g.61855002G>A	ENSP00000462701:p.Ser284Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S284L	ENST00000577390.1	37	c.851	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538796	0.65085	.	.	ENSG00000150394	ENST00000299345	T	0.03094	4.05	5.96	5.96	0.96718	Cadherin (4);Cadherin-like (1);	0.321368	0.32769	N	0.005679	T	0.12178	0.0296	M	0.82630	2.6	0.30459	N	0.774492	B;B	0.29909	0.261;0.027	B;B	0.40982	0.345;0.127	T	0.00731	-1.1590	10	0.62326	D	0.03	.	13.5936	0.61975	0.0705:0.0:0.9295:0.0	.	100;284	Q3LID3;P55286	.;CADH8_HUMAN	L	284	ENSP00000299345:S284L	ENSP00000299345:S284L	S	-	2	0	CDH8	60412503	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.976000	0.56867	2.831000	0.97527	0.650000	0.86243	TCA	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.408	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	G	NM_001796		61855002	-1	no_errors	ENST00000577390	ensembl	human	known	70_37	missense	SNP	1.000	A
CEP350	9857	genome.wustl.edu	37	1	179965887	179965887	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:179965887G>A	ENST00000367607.3	+	6	1013	c.595G>A	c.(595-597)Gat>Aat	p.D199N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	199					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTTTTAAATGATCGACCAGC	0.398																																																	0													82.0	74.0	77.0					1																	179965887		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.595G>A	1.37:g.179965887G>A	ENSP00000356579:p.Asp199Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.D199N	ENST00000367607.3	37	c.595	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.475900	0.96291	.	.	ENSG00000135837	ENST00000367607;ENST00000491495	T;T	0.17213	2.29;2.29	5.55	5.55	0.83447	.	0.000000	0.49916	D	0.000122	T	0.32941	0.0846	L	0.32530	0.975	0.58432	D	0.999995	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.989;0.998;1.0	T	0.01290	-1.1394	9	.	.	.	.	19.0717	0.93140	0.0:0.0:1.0:0.0	.	199;199;173	E7EU22;Q5VT06;E9PIK0	.;CE350_HUMAN;.	N	199;173	ENSP00000356579:D199N;ENSP00000435808:D173N	.	D	+	1	0	CEP350	178232510	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.593000	0.82686	2.606000	0.88127	0.579000	0.79373	GAT	CEP350	-	NULL		0.398	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	G	NM_014810		179965887	+1	no_errors	ENST00000367607	ensembl	human	known	70_37	missense	SNP	1.000	A
CHTF18	63922	genome.wustl.edu	37	16	839552	839552	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:839552C>T	ENST00000262315.9	+	4	506	c.443C>T	c.(442-444)tCa>tTa	p.S148L	RPUSD1_ENST00000561734.1_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.S345L|CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000455171.2_Missense_Mutation_p.S176L|RPUSD1_ENST00000007264.2_5'Flank|RPUSD1_ENST00000567114.1_5'Flank|RPUSD1_ENST00000565809.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	148					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TCCAGAGTCTCAGAAGCTGCT	0.632																																																	0													40.0	47.0	45.0					16																	839552		2049	4183	6232	SO:0001583	missense	63922			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.443C>T	16.37:g.839552C>T	ENSP00000262315:p.Ser148Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.S345L	ENST00000262315.9	37	c.1034	CCDS45371.1	16	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575068	0.28092	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.10192	2.9;2.91;2.93	4.69	-5.92	0.02261	.	3.283980	0.00633	N	0.000485	T	0.06645	0.0170	N	0.16307	0.4	0.09310	N	1	B;B;B	0.14012	0.001;0.009;0.0	B;B;B	0.15484	0.002;0.013;0.0	T	0.31081	-0.9956	10	0.25751	T	0.34	0.0537	8.1941	0.31385	0.0:0.5678:0.1141:0.3181	.	148;176;148	B4DEY3;Q8WVB6-2;Q8WVB6	.;.;CTF18_HUMAN	L	345;176;148	ENSP00000313029:S345L;ENSP00000406252:S176L;ENSP00000262315:S148L	ENSP00000262315:S148L	S	+	2	0	CHTF18	779553	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.288000	0.02783	-1.119000	0.02958	0.549000	0.68633	TCA	CHTF18	-	NULL		0.632	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF18	HGNC	protein_coding	OTTHUMT00000109061.3	C	NM_022092		839552	+1	no_errors	ENST00000317063	ensembl	human	known	70_37	missense	SNP	0.000	T
CES3	23491	genome.wustl.edu	37	16	66997226	66997226	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:66997226C>G	ENST00000303334.4	+	2	298	c.227C>G	c.(226-228)tCa>tGa	p.S76*	RP11-361L15.4_ENST00000566869.1_RNA|CES3_ENST00000394037.1_Nonsense_Mutation_p.S76*	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	76						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GACCGGTTCTCAGCCCCACAC	0.657																																																	0													53.0	58.0	56.0					16																	66997226		2200	4300	6500	SO:0001587	stop_gained	23491			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.227C>G	16.37:g.66997226C>G	ENSP00000304782:p.Ser76*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.S76*	ENST00000303334.4	37	c.227	CCDS10826.1	16	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116678	0.77323	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	.	.	.	4.31	4.31	0.51392	.	0.000000	0.32175	N	0.006462	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.1749	0.48593	0.1841:0.8159:0.0:0.0	.	.	.	.	X	76	.	ENSP00000304782:S76X	S	+	2	0	CES3	65554727	0.990000	0.36364	0.772000	0.31596	0.580000	0.36256	3.647000	0.54403	2.367000	0.80283	0.655000	0.94253	TCA	CES3	-	pfam_CarbesteraseB		0.657	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	HGNC	protein_coding	OTTHUMT00000268848.1	C	NM_024922		66997226	+1	no_errors	ENST00000303334	ensembl	human	known	70_37	nonsense	SNP	0.994	G
CILP2	148113	genome.wustl.edu	37	19	19649220	19649220	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:19649220G>A	ENST00000291495.5	+	1	147	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	CILP2_ENST00000586018.1_Missense_Mutation_p.R21Q	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	21						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCGGGGGCCCGAGGTGAGGCG	0.751																																																	0													7.0	9.0	8.0					19																	19649220		2088	4111	6199	SO:0001583	missense	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.62G>A	19.37:g.19649220G>A	ENSP00000291495:p.Arg21Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R21Q	ENST00000291495.5	37	c.62	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973961	0.74246	.	.	ENSG00000160161	ENST00000291495	T	0.51574	0.7	3.88	2.74	0.32292	.	0.000000	0.29900	N	0.010913	T	0.30448	0.0765	L	0.27053	0.805	0.31959	N	0.608623	D;D	0.58268	0.982;0.982	B;B	0.40677	0.337;0.337	T	0.42050	-0.9474	10	0.46703	T	0.11	-17.2113	8.8284	0.35069	0.0:0.2315:0.7685:0.0	.	21;21	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	Q	21	ENSP00000291495:R21Q	ENSP00000291495:R21Q	R	+	2	0	CILP2	19510220	0.998000	0.40836	1.000000	0.80357	0.465000	0.32709	0.185000	0.16958	2.180000	0.69256	0.306000	0.20318	CGA	CILP2	-	NULL		0.751	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	G	NM_153221		19649220	+1	no_errors	ENST00000291495	ensembl	human	known	70_37	missense	SNP	1.000	A
CKAP2L	150468	genome.wustl.edu	37	2	113522197	113522197	+	5'UTR	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:113522197C>G	ENST00000302450.6	-	0	57				CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GACAGTTTTTCTTCAAACGCC	0.627																																																	0													46.0	50.0	49.0					2																	113522197		2203	4300	6503	SO:0001623	5_prime_UTR_variant	150468			AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.-22G>C	2.37:g.113522197C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	RNA	SNP	-	NULL	ENST00000302450.6	37	NULL	CCDS2100.1	2																																																																																			CKAP2L	-	-		0.627	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP2L	HGNC	protein_coding	OTTHUMT00000254082.2	C	NM_152515		113522197	-1	no_errors	ENST00000461876	ensembl	human	known	70_37	rna	SNP	0.014	G
CLASP1	23332	genome.wustl.edu	37	2	122159170	122159170	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:122159170G>A	ENST00000263710.4	-	28	3204	c.2815C>T	c.(2815-2817)Ctt>Ttt	p.L939F	CLASP1_ENST00000541377.1_Missense_Mutation_p.L917F|CLASP1_ENST00000541859.1_Missense_Mutation_p.L695F|CLASP1_ENST00000409078.3_Missense_Mutation_p.L911F|CLASP1_ENST00000397587.3_Missense_Mutation_p.L918F|CLASP1_ENST00000455322.2_Missense_Mutation_p.L934F|CLASP1_ENST00000545861.1_Missense_Mutation_p.L685F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	939					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGTGTGAGAAGAACAAAAAGC	0.348																																																	0													162.0	158.0	159.0					2																	122159170		1820	4086	5906	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2815C>T	2.37:g.122159170G>A	ENSP00000263710:p.Leu939Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L939F	ENST00000263710.4	37	c.2815		2	.	.	.	.	.	.	.	.	.	.	G	32	5.119041	0.94385	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85031	0.5604	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.972	D	0.85738	0.1335	10	0.87932	D	0	-5.4087	20.0006	0.97406	0.0:0.0:1.0:0.0	.	911;918;939	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	F	939;934;918;917;695;911;685	ENSP00000263710:L939F;ENSP00000389372:L934F;ENSP00000380717:L918F;ENSP00000441625:L917F;ENSP00000441770:L695F;ENSP00000386442:L911F;ENSP00000438620:L685F	ENSP00000263710:L939F	L	-	1	0	CLASP1	121875640	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.734000	0.93682	0.591000	0.81541	CTT	CLASP1	-	superfamily_ARM-type_fold		0.348	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		G	NM_015282		122159170	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	missense	SNP	1.000	A
CNDP1	84735	genome.wustl.edu	37	18	72223680	72223680	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:72223680C>T	ENST00000358821.3	+	2	360	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CNDP1_ENST00000582365.1_Intron|CNDP1_ENST00000585136.1_3'UTR	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	44						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ACATTGACCTCCATCAGGATG	0.507																																					Melanoma(32;1029 1042 25286 38395 44237)												0													82.0	79.0	80.0					18																	72223680		2203	4300	6503	SO:0001819	synonymous_variant	84735				CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.132C>T	18.37:g.72223680C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Silent	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.L44	ENST00000358821.3	37	c.132	CCDS12007.1	18																																																																																			CNDP1	-	pirsf_GSH_degradosome_DUG1		0.507	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP1	HGNC	protein_coding	OTTHUMT00000256326.1	C	NM_032649		72223680	+1	no_errors	ENST00000358821	ensembl	human	known	70_37	silent	SNP	0.001	T
CNP	1267	genome.wustl.edu	37	17	40120646	40120646	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:40120646C>T	ENST00000393892.3	+	2	708	c.564C>T	c.(562-564)ctC>ctT	p.L188L	CNP_ENST00000393888.1_Silent_p.L168L|CNP_ENST00000591072.1_Intron|CNP_ENST00000472031.1_Intron	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	188					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TCCTGCCGCTCTACTTCGGCT	0.592																																																	0													26.0	29.0	28.0					17																	40120646		1969	4164	6133	SO:0001819	synonymous_variant	1267				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.564C>T	17.37:g.40120646C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase	p.L188	ENST00000393892.3	37	c.564	CCDS11414.2	17																																																																																			CNP	-	pfam_CNPase,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase		0.592	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNP	HGNC	protein_coding	OTTHUMT00000257443.2	C			40120646	+1	no_errors	ENST00000393892	ensembl	human	known	70_37	silent	SNP	0.984	T
COG1	9382	genome.wustl.edu	37	17	71193179	71193179	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:71193179G>A	ENST00000299886.4	+	3	781	c.701G>A	c.(700-702)aGa>aAa	p.R234K	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	234					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGCTGGCCAGAAAGGCAACT	0.522																																																	0													52.0	54.0	54.0					17																	71193179		2203	4300	6503	SO:0001583	missense	9382				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.701G>A	17.37:g.71193179G>A	ENSP00000299886:p.Arg234Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NPV9|Q9P2G6	Missense_Mutation	SNP	pfam_Vps51	p.R234K	ENST00000299886.4	37	c.701	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658592	0.67586	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.60299	0.22;0.2	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	L	0.55834	1.745	0.80722	D	1	D;D;D	0.89917	1.0;0.973;1.0	D;P;D	0.80764	0.994;0.77;0.994	T	0.74719	-0.3570	10	0.66056	D	0.02	-9.1963	19.4837	0.95020	0.0:0.0:1.0:0.0	.	234;234;234	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	K	234	ENSP00000400111:R234K;ENSP00000299886:R234K	ENSP00000299886:R234K	R	+	2	0	COG1	68704774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.345000	0.97053	2.607000	0.88179	0.655000	0.94253	AGA	COG1	-	NULL		0.522	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	G			71193179	+1	no_errors	ENST00000299886	ensembl	human	known	70_37	missense	SNP	1.000	A
COL20A1	57642	genome.wustl.edu	37	20	61939375	61939375	+	Silent	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:61939375C>G	ENST00000358894.6	+	7	808	c.708C>G	c.(706-708)ctC>ctG	p.L236L	COL20A1_ENST00000326996.6_Silent_p.L236L|COL20A1_ENST00000435874.1_Silent_p.L243L|COL20A1_ENST00000422202.1_Silent_p.L243L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	236	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGAACTCCCTCAGCACCAAGG	0.642																																																	0													43.0	49.0	47.0					20																	61939375		2144	4238	6382	SO:0001819	synonymous_variant	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.708C>G	20.37:g.61939375C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.L236	ENST00000358894.6	37	c.708	CCDS46628.1	20																																																																																			COL20A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.642	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	C	NM_020882		61939375	+1	no_errors	ENST00000326996	ensembl	human	known	70_37	silent	SNP	0.002	G
COL5A1	1289	genome.wustl.edu	37	9	137642697	137642697	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:137642697C>T	ENST00000371817.3	+	13	2045	c.1631C>T	c.(1630-1632)tCc>tTc	p.S544F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	544	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCAGGAGTCCCAGGCGCAA	0.637																																																	0													31.0	31.0	31.0					9																	137642697		2202	4300	6502	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1631C>T	9.37:g.137642697C>T	ENSP00000360882:p.Ser544Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.S544F	ENST00000371817.3	37	c.1631	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	19.79	3.893651	0.72639	.	.	ENSG00000130635	ENST00000371817	D	0.89681	-2.55	4.67	4.67	0.58626	.	0.244501	0.33591	U	0.004749	D	0.82287	0.5004	N	0.08118	0	0.44373	D	0.997272	P	0.44578	0.838	P	0.44990	0.466	D	0.86702	0.1930	10	0.87932	D	0	.	16.7019	0.85351	0.0:1.0:0.0:0.0	.	544	P20908	CO5A1_HUMAN	F	544	ENSP00000360882:S544F	ENSP00000360882:S544F	S	+	2	0	COL5A1	136782518	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.764000	0.74960	2.293000	0.77203	0.655000	0.94253	TCC	COL5A1	-	NULL		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	C	NM_000093		137642697	+1	no_errors	ENST00000371817	ensembl	human	known	70_37	missense	SNP	1.000	T
CRISPLD2	83716	genome.wustl.edu	37	16	84900605	84900605	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:84900605G>T	ENST00000262424.5	+	7	1036	c.812G>T	c.(811-813)aGa>aTa	p.R271I	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R270I|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R271I	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	271					extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AGGGTGATGAGACCCACCAAG	0.562																																																	0													118.0	99.0	105.0					16																	84900605		2199	4300	6499	SO:0001583	missense	83716			AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.812G>T	16.37:g.84900605G>T	ENSP00000262424:p.Arg271Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.R271I	ENST00000262424.5	37	c.812	CCDS10949.1	16	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048236	0.19827	.	.	ENSG00000103196	ENST00000262424	T	0.64438	-0.1	5.28	-0.726	0.11170	.	0.609131	0.17706	N	0.164746	T	0.44993	0.1320	L	0.36672	1.1	0.34815	D	0.738068	P;B;P	0.44946	0.641;0.015;0.846	B;B;B	0.39258	0.154;0.015;0.295	T	0.52177	-0.8610	10	0.41790	T	0.15	.	8.0931	0.30811	0.674:0.0:0.326:0.0	.	271;271;271	Q9H0B8;Q9H0B8-2;Q9H0B8-3	CRLD2_HUMAN;.;.	I	271	ENSP00000262424:R271I	ENSP00000262424:R271I	R	+	2	0	CRISPLD2	83458106	0.056000	0.20664	0.004000	0.12327	0.033000	0.12548	0.300000	0.19156	-0.000000	0.14550	0.561000	0.74099	AGA	CRISPLD2	-	NULL		0.562	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD2	HGNC	protein_coding	OTTHUMT00000269086.2	G	NM_031476		84900605	+1	no_errors	ENST00000262424	ensembl	human	known	70_37	missense	SNP	0.417	T
DCAF8L2	347442	genome.wustl.edu	37	X	27765143	27765143	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:27765143C>T	ENST00000451261.2	+	5	530	c.131C>T	c.(130-132)tCa>tTa	p.S44L		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	44										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATAGCGACCTCAGAGCTGAGT	0.557																																																	0													64.0	48.0	53.0					X																	27765143		692	1591	2283	SO:0001583	missense	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.131C>T	X.37:g.27765143C>T	ENSP00000462745:p.Ser44Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXH9|J3KT06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S44L	ENST00000451261.2	37	c.131	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL		0.557	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	C	XM_293354		27765143	+1	no_errors	ENST00000451261	ensembl	human	known	70_37	missense	SNP	0.008	T
DENND4C	55667	genome.wustl.edu	37	9	19300261	19300261	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:19300261G>C	ENST00000380432.2	+	5	568	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	DENND4C_ENST00000602925.1_Missense_Mutation_p.E415Q|DENND4C_ENST00000434457.2_Missense_Mutation_p.E415Q			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	179	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGTTTTACTTGAGAGTAAAAT	0.398																																																	0													182.0	160.0	167.0					9																	19300261		2203	4300	6503	SO:0001583	missense	55667			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.535G>C	9.37:g.19300261G>C	ENSP00000369797:p.Glu179Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E179Q	ENST00000380432.2	37	c.535		9	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918422	0.92249	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.95	4.95	0.65309	DENN (3);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89466	0.3740	9	0.87932	D	0	-19.1227	18.7218	0.91698	0.0:0.0:1.0:0.0	.	179	Q5VZ89	DEN4C_HUMAN	Q	179	.	ENSP00000369802:E179Q	E	+	1	0	DENND4C	19290261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.730000	0.93505	0.484000	0.47621	GAG	DENND4C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.398	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		G	NM_017925		19300261	+1	no_errors	ENST00000380437	ensembl	human	known	70_37	missense	SNP	1.000	C
DGKZ	8525	genome.wustl.edu	37	11	46397894	46397894	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:46397894G>C	ENST00000454345.1	+	24	2797	c.2672G>C	c.(2671-2673)gGa>gCa	p.G891A	DGKZ_ENST00000343674.6_Missense_Mutation_p.G719A|DGKZ_ENST00000318201.8_Missense_Mutation_p.G680A|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.G707A|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000421244.2_Missense_Mutation_p.G703A|DGKZ_ENST00000456247.2_Missense_Mutation_p.G702A|DGKZ_ENST00000395574.3_Missense_Mutation_p.G669A|DGKZ_ENST00000528615.1_Missense_Mutation_p.G481A|DGKZ_ENST00000527911.1_Missense_Mutation_p.G703A	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	891					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GATGGTGCTGGAGCCAAGTCC	0.602																																																	0													142.0	154.0	150.0					11																	46397894		2202	4299	6501	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2672G>C	11.37:g.46397894G>C	ENSP00000412178:p.Gly891Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G891A	ENST00000454345.1	37	c.2672	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	G	2.074	-0.412418	0.04799	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.22539	2.5;2.69;2.69;2.74;3.67;2.51;2.57;2.68;1.95	4.28	3.33	0.38152	.	0.516357	0.21370	N	0.075658	T	0.06962	0.0177	N	0.03608	-0.345	0.29939	N	0.82125	B;B;B;B;B;B;B;B;B	0.22909	0.009;0.0;0.016;0.004;0.008;0.003;0.014;0.0;0.077	B;B;B;B;B;B;B;B;B	0.19946	0.004;0.001;0.019;0.004;0.01;0.009;0.016;0.001;0.027	T	0.30327	-0.9982	10	0.08837	T	0.75	.	5.5411	0.17038	0.1324:0.0:0.6714:0.1962	.	680;668;646;703;891;702;703;669;719	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	A	719;481;669;668;703;702;703;680;891	ENSP00000343065:G719A;ENSP00000434719:G481A;ENSP00000378941:G669A;ENSP00000436273:G668A;ENSP00000436291:G703A;ENSP00000395684:G702A;ENSP00000391021:G703A;ENSP00000320340:G680A;ENSP00000412178:G891A	ENSP00000320340:G680A	G	+	2	0	DGKZ	46354470	0.985000	0.35326	1.000000	0.80357	0.797000	0.45037	0.962000	0.29280	1.115000	0.41800	0.407000	0.27541	GGA	DGKZ	-	NULL		0.602	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	G	NM_001105540		46397894	+1	no_errors	ENST00000454345	ensembl	human	known	70_37	missense	SNP	1.000	C
DHX9	1660	genome.wustl.edu	37	1	182812469	182812469	+	Missense_Mutation	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:182812469C>A	ENST00000367549.3	+	3	262	c.152C>A	c.(151-153)tCc>tAc	p.S51Y		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	51	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ATGGGAAATTCCACCAATAAA	0.343																																					Colon(69;210 1162 3697 13559 39565)												0													91.0	85.0	87.0					1																	182812469		1813	4069	5882	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.152C>A	1.37:g.182812469C>A	ENSP00000356520:p.Ser51Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.S51Y	ENST00000367549.3	37	c.152	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789411	0.90367	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.77750	-1.12	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.90930	0.7149	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92258	0.5814	10	0.87932	D	0	.	18.8105	0.92056	0.0:1.0:0.0:0.0	.	51	Q08211	DHX9_HUMAN	Y	51	ENSP00000356520:S51Y	ENSP00000356520:S51Y	S	+	2	0	DHX9	181079092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.086000	0.76885	2.805000	0.96524	0.655000	0.94253	TCC	DHX9	-	pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd		0.343	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	C	NM_030588		182812469	+1	no_errors	ENST00000367549	ensembl	human	known	70_37	missense	SNP	1.000	A
DICER1	23405	genome.wustl.edu	37	14	95556868	95556868	+	Silent	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:95556868G>C	ENST00000526495.1	-	29	6027	c.5736C>G	c.(5734-5736)ctC>ctG	p.L1912L	DICER1_ENST00000541352.1_3'UTR|DICER1_ENST00000527414.1_Silent_p.L1912L|DICER1_ENST00000393063.1_Silent_p.L1912L|DICER1_ENST00000556045.1_Silent_p.L810L|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000343455.3_Silent_p.L1912L			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1912	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GATTAGCTTTGAGGCTTCGGA	0.388			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													168.0	168.0	168.0					14																	95556868		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5736C>G	14.37:g.95556868G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.L1912	ENST00000526495.1	37	c.5736	CCDS9931.1	14																																																																																			DICER1	-	smart_Ds-RNA-bd,pfscan_Ds-RNA-bd		0.388	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	G			95556868	-1	no_errors	ENST00000343455	ensembl	human	known	70_37	silent	SNP	1.000	C
DNAJC3	5611	genome.wustl.edu	37	13	96439260	96439260	+	Splice_Site	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:96439260G>C	ENST00000602402.1	+	11	1325		c.e11-1		DNAJC3_ENST00000376795.6_Splice_Site	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CCACCCCTCAGAAATGCCAAA	0.338																																																	0													55.0	56.0	56.0					13																	96439260		2203	4300	6503	SO:0001630	splice_region_variant	5611			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.1209-1G>C	13.37:g.96439260G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86WT9|Q8N4N2	Splice_Site	SNP	-	e11-1	ENST00000602402.1	37	c.1209-1	CCDS9479.1	13	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440162	0.83993	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAJC3	95237261	1.000000	0.71417	0.999000	0.59377	0.871000	0.50021	9.368000	0.97152	2.809000	0.96659	0.655000	0.94253	.	DNAJC3	-	-		0.338	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC3	HGNC	protein_coding	OTTHUMT00000045504.3	G		Intron	96439260	+1	no_errors	ENST00000376795	ensembl	human	known	70_37	splice_site	SNP	1.000	C
DOCK2	1794	genome.wustl.edu	37	5	169410110	169410110	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:169410110G>A	ENST00000256935.8	+	28	2918	c.2838G>A	c.(2836-2838)caG>caA	p.Q946Q	DOCK2_ENST00000540750.1_Silent_p.Q7Q|DOCK2_ENST00000520908.1_Silent_p.Q438Q|FAM196B_ENST00000523970.1_5'Flank|FAM196B_ENST00000377365.3_5'Flank|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	946	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTAAACCAGATGGGTGACC	0.463																																																	0													183.0	172.0	175.0					5																	169410110		2203	4300	6503	SO:0001819	synonymous_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2838G>A	5.37:g.169410110G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3I0|Q96AK7	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.Q946	ENST00000256935.8	37	c.2838	CCDS4371.1	5																																																																																			DOCK2	-	superfamily_ARM-type_fold		0.463	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	G	NM_004946		169410110	+1	no_errors	ENST00000256935	ensembl	human	known	70_37	silent	SNP	1.000	A
DQX1	165545	genome.wustl.edu	37	2	74746333	74746333	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:74746333C>A	ENST00000404568.3	-	11	2050	c.1831G>T	c.(1831-1833)Gga>Tga	p.G611*	DQX1_ENST00000393951.2_Nonsense_Mutation_p.G611*	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	611						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGGTAATTTCCAGTCCCGTCT	0.493																																																	0													81.0	86.0	84.0					2																	74746333		2203	4300	6503	SO:0001587	stop_gained	165545			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1831G>T	2.37:g.74746333C>A	ENSP00000384621:p.Gly611*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6B017|Q8NAM8	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.G611*	ENST00000404568.3	37	c.1831	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	C	39	7.407221	0.98265	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.3541	16.7613	0.85513	0.0:1.0:0.0:0.0	.	.	.	.	X	611	.	ENSP00000377523:G611X	G	-	1	0	DQX1	74599841	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.372000	0.79612	2.558000	0.86282	0.655000	0.94253	GGA	DQX1	-	pfam_DUF1605		0.493	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	HGNC	protein_coding	OTTHUMT00000252230.3	C	NM_133637		74746333	-1	no_errors	ENST00000393951	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DUS1L	64118	genome.wustl.edu	37	17	80022092	80022092	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:80022092C>T	ENST00000354321.7	-	2	741	c.256G>A	c.(256-258)Gag>Aag	p.E86K	DUS1L_ENST00000306796.5_Missense_Mutation_p.E86K			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	86							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACAAACACCTCCGGGTCATTG	0.592																																																	0													59.0	48.0	51.0					17																	80022092		2200	4300	6500	SO:0001583	missense	64118				CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.256G>A	17.37:g.80022092C>T	ENSP00000346280:p.Glu86Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHV4|Q96AI3	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.E86K	ENST00000354321.7	37	c.256	CCDS32775.1	17	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351298	0.61183	.	.	ENSG00000169718	ENST00000354321;ENST00000306796	T;T	0.25912	1.77;1.77	3.51	3.51	0.40186	Aldolase-type TIM barrel (1);	0.119463	0.56097	D	0.000031	T	0.23766	0.0575	L	0.37507	1.11	0.80722	D	1	B	0.27450	0.179	B	0.33960	0.173	T	0.07404	-1.0774	10	0.28530	T	0.3	-25.1922	15.2167	0.73274	0.0:1.0:0.0:0.0	.	86	Q6P1R4	DUS1L_HUMAN	K	86	ENSP00000346280:E86K;ENSP00000303515:E86K	ENSP00000303515:E86K	E	-	1	0	DUS1L	77615381	1.000000	0.71417	0.692000	0.30179	0.843000	0.47879	5.447000	0.66606	1.810000	0.52873	0.561000	0.74099	GAG	DUS1L	-	pfam_tRNA_hU_synthase		0.592	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUS1L	HGNC	protein_coding	OTTHUMT00000442347.1	C	NM_022156		80022092	-1	no_errors	ENST00000306796	ensembl	human	known	70_37	missense	SNP	0.996	T
DYRK1A	1859	genome.wustl.edu	37	21	38884298	38884298	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr21:38884298G>C	ENST00000398960.2	+	11	1831	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000339659.4_Missense_Mutation_p.E577Q|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E358Q	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	586					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCTGTTCAAGAAACAACCTT	0.483																																					Melanoma(114;464 1602 31203 43785 45765)												0													109.0	92.0	98.0					21																	38884298		2203	4300	6503	SO:0001583	missense	1859			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1756G>C	21.37:g.38884298G>C	ENSP00000381932:p.Glu586Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E586Q	ENST00000398960.2	37	c.1756	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	G	34	5.372575	0.95923	.	.	ENSG00000157540	ENST00000339659;ENST00000398960;ENST00000455387	T;T;T	0.56103	0.48;0.48;1.04	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	N	0.24115	0.695	0.80722	D	1	D;D	0.63880	0.981;0.993	D;P	0.65140	0.932;0.794	T	0.49331	-0.8951	10	0.14252	T	0.57	.	19.4686	0.94952	0.0:0.0:1.0:0.0	.	586;577	Q13627;Q13627-2	DYR1A_HUMAN;.	Q	577;586;358	ENSP00000340373:E577Q;ENSP00000381932:E586Q;ENSP00000407854:E358Q	ENSP00000340373:E577Q	E	+	1	0	DYRK1A	37806168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.608000	0.88229	0.655000	0.94253	GAA	DYRK1A	-	NULL		0.483	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	G	NM_001396		38884298	+1	no_errors	ENST00000398960	ensembl	human	known	70_37	missense	SNP	1.000	C
ECEL1	9427	genome.wustl.edu	37	2	233348763	233348763	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:233348763G>A	ENST00000304546.1	-	7	1565	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V	ECEL1_ENST00000409941.1_Missense_Mutation_p.A452V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	452					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCGCCAAGCGCCATGCCAAA	0.612																																																	0													87.0	93.0	91.0					2																	233348763		2203	4300	6503	SO:0001583	missense	9427			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1355C>T	2.37:g.233348763G>A	ENSP00000302051:p.Ala452Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A452V	ENST00000304546.1	37	c.1355	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998430	0.74818	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.78707	-1.2;-1.2	5.33	5.33	0.75918	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.82111	0.4966	M	0.80183	2.485	0.80722	D	1	P;D	0.57571	0.827;0.98	B;P	0.44897	0.271;0.463	D	0.86040	0.1519	10	0.87932	D	0	-34.9223	19.0163	0.92896	0.0:0.0:1.0:0.0	.	452;452	O95672-2;O95672	.;ECEL1_HUMAN	V	452	ENSP00000302051:A452V;ENSP00000386333:A452V	ENSP00000302051:A452V	A	-	2	0	ECEL1	233057007	1.000000	0.71417	0.953000	0.39169	0.381000	0.30169	8.062000	0.89475	2.503000	0.84419	0.557000	0.71058	GCG	ECEL1	-	pfam_Peptidase_M13_N		0.612	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	G	NM_004826		233348763	-1	no_errors	ENST00000304546	ensembl	human	known	70_37	missense	SNP	0.999	A
ECI2	10455	genome.wustl.edu	37	6	4117592	4117592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:4117592G>A	ENST00000380118.3	-	9	1015	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000380125.2_Nonsense_Mutation_p.Q297*|ECI2_ENST00000361538.2_Nonsense_Mutation_p.Q297*|ECI2_ENST00000465828.1_Nonsense_Mutation_p.Q297*|ECI2_ENST00000413766.2_Nonsense_Mutation_p.Q160*|C6orf201_ENST00000380175.4_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	327					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						ACTTCTTTCTGAAAAGTGCTA	0.403																																																	0													104.0	110.0	108.0					6																	4117592		2203	4300	6503	SO:0001587	stop_gained	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.979C>T	6.37:g.4117592G>A	ENSP00000369461:p.Gln327*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Nonsense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.Q327*	ENST00000380118.3	37	c.979	CCDS43420.2	6	.	.	.	.	.	.	.	.	.	.	G	36	5.761141	0.96906	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	.	.	.	6.17	4.27	0.50696	.	0.104631	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	11.7003	0.51567	0.0:0.1383:0.7265:0.1352	.	.	.	.	X	327;297;160;297;297	.	ENSP00000354737:Q297X	Q	-	1	0	ECI2	4062591	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.106000	0.41835	1.585000	0.49928	0.655000	0.94253	CAG	ECI2	-	NULL		0.403	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000039716.4	G	NM_006117		4117592	-1	no_errors	ENST00000380118	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ECM1	1893	genome.wustl.edu	37	1	150485845	150485845	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:150485845C>T	ENST00000369047.4	+	10	1650	c.1525C>T	c.(1525-1527)Cta>Tta	p.L509L	ECM1_ENST00000470432.1_3'UTR|LINC00568_ENST00000416894.1_lincRNA|ECM1_ENST00000346569.6_Silent_p.L384L|ECM1_ENST00000369049.4_Silent_p.L536L	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	509					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAACGTGGCTCTAGTGTCTGG	0.542																																					Melanoma(156;1696 2560 11093 19685)												0													108.0	99.0	102.0					1																	150485845		2203	4300	6503	SO:0001819	synonymous_variant	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1525C>T	1.37:g.150485845C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Silent	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.L536	ENST00000369047.4	37	c.1606	CCDS953.1	1																																																																																			ECM1	-	pfam_ECM1		0.542	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	C	NM_004425		150485845	+1	no_errors	ENST00000369049	ensembl	human	known	70_37	silent	SNP	0.933	T
EFCAB13	124989	genome.wustl.edu	37	17	45490240	45490240	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:45490240G>A	ENST00000331493.2	+	22	2791	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E698K|CTD-2026D20.2_ENST00000523101.1_RNA	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	794	EF-hand 5.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TAATTTAACTGAGGAGGACTT	0.353																																																	0													129.0	127.0	127.0					17																	45490240		2203	4300	6503	SO:0001583	missense	124989			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.2380G>A	17.37:g.45490240G>A	ENSP00000332111:p.Glu794Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.E794K	ENST00000331493.2	37	c.2380	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286028	0.59867	.	.	ENSG00000178852	ENST00000331493;ENST00000517484	T;T	0.24350	1.86;1.86	3.24	2.25	0.28309	EF-hand-like domain (1);	0.451068	0.18521	N	0.138774	T	0.42787	0.1218	M	0.71581	2.175	0.21652	N	0.999608	D;P	0.67145	0.996;0.713	D;B	0.75484	0.986;0.246	T	0.07501	-1.0769	10	0.59425	D	0.04	-6.2726	5.6112	0.17406	0.1524:0.0:0.8476:0.0	.	794;698	Q8IY85;G3V128	CQ057_HUMAN;.	K	794;698	ENSP00000332111:E794K;ENSP00000430048:E698K	ENSP00000332111:E794K	E	+	1	0	C17orf57	42845239	0.856000	0.29760	0.936000	0.37596	0.671000	0.39405	0.959000	0.29240	1.815000	0.52974	0.306000	0.20318	GAG	EFCAB13	-	NULL		0.353	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	G	NM_152347		45490240	+1	no_errors	ENST00000331493	ensembl	human	known	70_37	missense	SNP	0.594	A
ELL2	22936	genome.wustl.edu	37	5	95234166	95234166	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:95234166G>C	ENST00000237853.4	-	8	1652	c.1303C>G	c.(1303-1305)Ctg>Gtg	p.L435V	ELL2_ENST00000431061.2_Missense_Mutation_p.L185V	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	435					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		AAGGTTTCCAGAGAAGTCCTA	0.423																																																	0													110.0	115.0	113.0					5																	95234166		2203	4300	6503	SO:0001583	missense	22936			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1303C>G	5.37:g.95234166G>C	ENSP00000237853:p.Leu435Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNK7	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.L435V	ENST00000237853.4	37	c.1303	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636684	0.14386	.	.	ENSG00000118985	ENST00000237853;ENST00000431061	T;T	0.30714	1.89;1.52	5.35	1.95	0.26073	.	0.646613	0.15980	N	0.235348	T	0.28699	0.0711	M	0.70275	2.135	0.31479	N	0.667459	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	10	0.13853	T	0.58	1.6341	9.6179	0.39704	0.1119:0.2524:0.6357:0.0	.	435	O00472	ELL2_HUMAN	V	435;185	ENSP00000237853:L435V;ENSP00000399704:L185V	ENSP00000237853:L435V	L	-	1	2	ELL2	95259922	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	0.966000	0.29331	0.567000	0.29293	0.484000	0.47621	CTG	ELL2	-	NULL		0.423	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	G	NM_012081		95234166	-1	no_errors	ENST00000237853	ensembl	human	known	70_37	missense	SNP	0.998	C
EMC1	23065	genome.wustl.edu	37	1	19561705	19561705	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:19561705C>T	ENST00000477853.1	-	13	1393	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.E429K|EMC1_ENST00000375199.3_Missense_Mutation_p.E450K	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	451						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CACACCACTTCTGCCAGGGAC	0.562																																																	0													89.0	79.0	82.0					1																	19561705		2203	4300	6503	SO:0001583	missense	23065				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1351G>A	1.37:g.19561705C>T	ENSP00000420608:p.Glu451Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like	p.E451K	ENST00000477853.1	37	c.1351	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.528744|4.528744	0.85706|0.85706	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.22743|.	1.94;1.94;1.94|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.044530|.	0.85682|.	D|.	0.000000|.	T|T	0.71745|0.71745	0.3376|0.3376	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;B;P;P|.	0.46142|.	0.027;0.046;0.873;0.799|.	B;B;P;B|.	0.44811|.	0.037;0.045;0.461;0.272|.	T|T	0.66929|0.66929	-0.5799|-0.5799	9|5	.|.	.|.	.|.	-20.61|-20.61	18.8623|18.8623	0.92278|0.92278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	429;450;450;451|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	K|K	451;450;429|184	ENSP00000420608:E451K;ENSP00000364345:E450K;ENSP00000364354:E429K|.	.|.	E|R	-|-	1|2	0|0	KIAA0090|KIAA0090	19434292|19434292	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.944000|0.944000	0.59088|0.59088	7.280000|7.280000	0.78610|0.78610	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAA|AGA	EMC1	-	NULL		0.562	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	C	NM_015047		19561705	-1	no_errors	ENST00000477853	ensembl	human	known	70_37	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	GL000212.1	64673	64673	+	IGR	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrGL000212.1:64673C>T								None (None upstream) : None (None downstream)																							CCCAGGGCATCGCCAACGGGG	0.701																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.64673C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S141L		37	c.422		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.701					ENSG00000212857	Clone_based_ensembl_gene			C			64673	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	missense	SNP	NULL	T
LIMS1	3987	genome.wustl.edu	37	2	109150518	109150518	+	5'Flank	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:109150518G>A	ENST00000544547.1	+	0	0				AC012487.2_ENST00000440975.1_RNA|AC012487.2_ENST00000322353.3_RNA	NM_001193483.2	NP_001180412.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1						cell aging (GO:0007569)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chordate embryonic development (GO:0043009)|establishment or maintenance of cell polarity (GO:0007163)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|protein heterooligomerization (GO:0051291)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						GAGGCAAGGAGAGCCGGGCCC	0.726																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS2078.1, CCDS54382.1, CCDS54383.1, CCDS54384.1, CCDS54385.1	2q12.3	2008-05-23			ENSG00000169756	ENSG00000169756			6616	protein-coding gene	gene with protein product		602567				7517666, 10022929	Standard	NM_001193482		Approved	PINCH, PINCH1	uc002tek.4	P48059	OTTHUMG00000130983		2.37:g.109150518G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAJ4|B7Z483|B7Z7R3|B7Z907|Q53TE0|Q9BS44	RNA	SNP	-	NULL	ENST00000544547.1	37	NULL	CCDS54382.1	2																																																																																			AC012487.2	-	-		0.726	LIMS1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000214184	Clone_based_vega_gene	protein_coding		G	NM_004987		109150518	-1	no_errors	ENST00000322353	ensembl	human	known	70_37	rna	SNP	0.000	A
AC007952.5	0	genome.wustl.edu	37	17	18996538	18996538	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:18996538G>C	ENST00000428928.1	+	1	252	c.34G>C	c.(34-36)Gag>Cag	p.E12Q	AC007952.5_ENST00000399093.1_5'UTR|RP11-160E2.19_ENST00000583141.1_lincRNA|AC007952.5_ENST00000443876.1_Missense_Mutation_p.E12Q|AC007952.5_ENST00000399091.1_5'UTR																							GTCgacctttgagacctgctt	0.572																																																	0																																										SO:0001583	missense	0																														ENST00000428928.1:c.34G>C	17.37:g.18996538G>C	ENSP00000395460:p.Glu12Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E12Q	ENST00000428928.1	37	c.34		17	.	.	.	.	.	.	.	.	.	.	G	7.140	0.581676	0.13749	.	.	ENSG00000228157	ENST00000443876;ENST00000428928	.	.	.	1.57	-0.841	0.10752	.	.	.	.	.	T	0.35595	0.0937	.	.	.	.	.	.	.	.	.	.	.	.	T	0.45086	-0.9285	4	0.87932	D	0	.	2.4457	0.04506	0.2463:0.3276:0.4262:0.0	.	.	.	.	Q	12	.	ENSP00000395460:E12Q	E	+	1	0	AC007952.5	18937263	0.001000	0.12720	0.000000	0.03702	0.098000	0.18820	0.093000	0.15086	-0.194000	0.10399	0.184000	0.17185	GAG	AC007952.5	-	NULL		0.572	AC007952.5-202	KNOWN	basic|appris_candidate_longest	protein_coding	ENSG00000228157	Clone_based_vega_gene	protein_coding		G			18996538	+1	no_errors	ENST00000428928	ensembl	human	known	70_37	missense	SNP	0.000	C
AC087491.2	0	genome.wustl.edu	37	17	37778472	37778472	+	lincRNA	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:37778472G>C	ENST00000398554.1	+	0	322																											GTCCAGGGCAGAGAAAGAGAG	0.562											OREG0024379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												0																															17.37:g.37778472G>C		Somatic	873	WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000398554.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	G	2.426	-0.332028	0.05314	.	.	ENSG00000214546	ENST00000398554	.	.	.	2.21	1.19	0.21007	.	.	.	.	.	T	0.48277	0.1491	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58521	-0.7622	4	0.87932	D	0	.	6.6713	0.23070	0.0:0.2989:0.7011:0.0	.	.	.	.	H	79	.	ENSP00000381562:Q79H	Q	+	3	2	AC087491.2	35031998	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.328000	0.19681	0.487000	0.27698	-0.693000	0.03709	CAG	AC087491.2	-	-		0.562	AC087491.2-001	KNOWN	basic	lincRNA	ENSG00000214546	Clone_based_vega_gene	lincRNA	OTTHUMT00000255987.1	G			37778472	+1	no_errors	ENST00000398554	ensembl	human	known	70_37	rna	SNP	0.001	C
RP11-782C8.2	0	genome.wustl.edu	37	1	143189135	143189135	+	lincRNA	SNP	C	C	T	rs202151544		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:143189135C>T	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.3_ENST00000425124.1_lincRNA																							GTTGTTTAAACAGCTGACATT	0.318																																																	0																																												0																															1.37:g.143189135C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			BX571672.2	-	-		0.318	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	C			143189135	-1	no_errors	ENST00000447389	ensembl	human	known	70_37	rna	SNP	0.003	T
BZW2	28969	genome.wustl.edu	37	7	16737641	16737641	+	Intron	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:16737641G>A	ENST00000433922.2	+	10	1147				BZW2_ENST00000258761.3_Intron|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000407633.1_Intron|BZW2_ENST00000405202.1_Intron|BZW2_ENST00000452975.2_Intron	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TCCCACGCAAGTGACGGCTTT	0.502																																																	0													57.0	55.0	56.0					7																	16737641		2203	4300	6503	SO:0001627	intron_variant	0			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.970-32G>A	7.37:g.16737641G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D123|Q3B779|Q96JW5|Q9H3F7	RNA	SNP	-	NULL	ENST00000433922.2	37	NULL	CCDS5362.1	7																																																																																			AC073333.8	-	-		0.502	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000235837	Clone_based_vega_gene	protein_coding	OTTHUMT00000253256.2	G	NM_014038		16737641	-1	no_errors	ENST00000418907	ensembl	human	known	70_37	rna	SNP	0.000	A
C4BPAP1	727859	genome.wustl.edu	37	1	207355982	207355982	+	lincRNA	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:207355982G>A	ENST00000442684.1	+	0	458																											CATTGAATGTGATTCTGGCTA	0.438																																																	0																																												0																															1.37:g.207355982G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000442684.1	37	NULL		1																																																																																			RP11-164O23.7	-	-		0.438	RP11-164O23.7-001	KNOWN	basic	lincRNA	ENSG00000243636	Clone_based_vega_gene	lincRNA	OTTHUMT00000088206.1	G			207355982	+1	no_errors	ENST00000442684	ensembl	human	known	70_37	rna	SNP	0.085	A
ISLR2	57611	genome.wustl.edu	37	15	74421382	74421382	+	5'Flank	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:74421382C>T	ENST00000361742.3	+	0	0				RP11-247C2.2_ENST00000514871.1_Silent_p.S17S|ISLR2_ENST00000435464.1_5'Flank|ISLR2_ENST00000565540.1_5'Flank|ISLR2_ENST00000453268.2_5'Flank|RP11-247C2.2_ENST00000563727.1_5'Flank|ISLR2_ENST00000419208.1_5'Flank|ISLR2_ENST00000445793.1_5'Flank|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_5'Flank	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2						positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TCTCACCCCTCGACCATTTTC	0.657																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624		15.37:g.74421382C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K352|Q9P263	Silent	SNP	NULL	p.S17	ENST00000361742.3	37	c.51	CCDS10259.1	15																																																																																			RP11-247C2.2	-	NULL		0.657	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248540	Clone_based_vega_gene	protein_coding	OTTHUMT00000269046.1	C	NM_020851		74421382	-1	no_errors	ENST00000514871	ensembl	human	putative	70_37	silent	SNP	0.000	T
CNTN2	6900	genome.wustl.edu	37	1	205031412	205031412	+	Intron	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:205031412G>A	ENST00000331830.4	+	10	1394				AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)						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)			TCTGCATCCTGAGGTTCCAGG	0.562																																					Melanoma(183;2548 2817 37099 41192)												0																																										SO:0001627	intron_variant	0			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.1111-156G>A	1.37:g.205031412G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P78432|Q5T054	RNA	SNP	-	NULL	ENST00000331830.4	37	NULL	CCDS1449.1	1																																																																																			AL583832.1	-	-		0.562	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000251696	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000090080.3	G	NM_005076		205031412	+1	no_errors	ENST00000515887	ensembl	human	novel	70_37	rna	SNP	0.010	A
SLIT3	6586	genome.wustl.edu	37	5	168134917	168134917	+	Intron	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:168134917C>G	ENST00000519560.1	-	26	3264				SLIT3_ENST00000332966.8_Intron|SLIT3_ENST00000404867.3_Intron|CTC-558O2.1_ENST00000521870.1_RNA|CTC-558O2.1_ENST00000522615.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCCCCTCTCTAGGGCCAGG	0.617																																					Ovarian(29;311 847 10864 17279 24903)												0																																										SO:0001627	intron_variant	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2844+63G>C	5.37:g.168134917C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8U9|J3KNP3|O95804|Q9UFH5	RNA	SNP	-	NULL	ENST00000519560.1	37	NULL	CCDS4369.1	5																																																																																			CTC-558O2.1	-	-		0.617	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254042	Clone_based_vega_gene	protein_coding	OTTHUMT00000252792.4	C	NM_003062		168134917	+1	no_errors	ENST00000522615	ensembl	human	known	70_37	rna	SNP	0.000	G
PYGL	5836	genome.wustl.edu	37	14	51379876	51379876	+	Intron	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:51379876C>T	ENST00000216392.7	-	13	1851				RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Intron|PYGL_ENST00000544180.2_Intron	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver						5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	AAGATGACTTCAATTTGGGGA	0.433																																																	0													38.0	38.0	38.0					14																	51379876		2203	4300	6503	SO:0001627	intron_variant	0				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1519-28G>A	14.37:g.51379876C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	RNA	SNP	-	NULL	ENST00000216392.7	37	NULL	CCDS32080.1	14																																																																																			RP11-218E20.5	-	-		0.433	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258745	Clone_based_vega_gene	protein_coding	OTTHUMT00000390654.3	C	NM_002863		51379876	+1	no_errors	ENST00000557343	ensembl	human	known	70_37	rna	SNP	0.000	T
PKD1	5310	genome.wustl.edu	37	16	2142924	2142924	+	Intron	SNP	G	G	A	rs377211385		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:2142924G>A	ENST00000262304.4	-	38	11365				MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Intron|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)						anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTAAAGCCCAGAAGACAGACC	0.587																																																	0													76.0	85.0	82.0					16																	2142924		2197	4299	6496	SO:0001627	intron_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11156+30C>T	16.37:g.2142924G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15140|Q15141	RNA	SNP	-	NULL	ENST00000262304.4	37	NULL	CCDS32369.1	16																																																																																			RP11-304L19.1	-	-		0.587	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000259933	Clone_based_vega_gene	protein_coding	OTTHUMT00000341688.1	G			2142924	+1	no_errors	ENST00000563284	ensembl	human	known	70_37	rna	SNP	0.000	A
RP11-480A16.1	0	genome.wustl.edu	37	3	195677915	195677915	+	lincRNA	SNP	A	A	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:195677915A>G	ENST00000570130.1	-	0	1651																											CATCCTGCAGAGATGAAAGGC	0.582																																																	0																																												0																															3.37:g.195677915A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000570130.1	37	NULL		3																																																																																			RP11-480A16.1	-	-		0.582	RP11-480A16.1-001	KNOWN	basic	lincRNA	ENSG00000260261	Clone_based_vega_gene	lincRNA	OTTHUMT00000431190.1	A			195677915	-1	no_errors	ENST00000570130	ensembl	human	known	70_37	rna	SNP	0.014	G
RAB8A	4218	genome.wustl.edu	37	19	16243708	16243708	+	3'UTR	SNP	A	A	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:16243708A>T	ENST00000300935.3	+	0	1491				CTD-2231E14.8_ENST00000597983.1_RNA|HSH2D_ENST00000593154.2_5'Flank|RAB8A_ENST00000586682.1_3'UTR|CTD-2231E14.8_ENST00000599676.1_RNA|HSH2D_ENST00000397372.4_5'Flank|HSH2D_ENST00000253680.6_5'Flank	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family						axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						ACCAAAGGAAAGCACAAATGA	0.488																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.*594A>T	19.37:g.16243708A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEK7|P24407|Q6FHV5	RNA	SNP	-	NULL	ENST00000300935.3	37	NULL	CCDS12339.1	19																																																																																			CTD-2231E14.8	-	-		0.488	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269243	Clone_based_vega_gene	protein_coding	OTTHUMT00000460186.1	A	NM_005370		16243708	-1	no_errors	ENST00000599676	ensembl	human	known	70_37	rna	SNP	1.000	T
EPHA2	1969	genome.wustl.edu	37	1	16460102	16460102	+	Splice_Site	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:16460102C>A	ENST00000358432.5	-	10	1893		c.e10-1			NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TTCAGTTGTTCTGGAAGGAGA	0.567																																																	0													47.0	48.0	48.0					1																	16460102		2203	4300	6503	SO:0001630	splice_region_variant	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1739-1G>T	1.37:g.16460102C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5A968|Q8N3Z2	Splice_Site	SNP	-	e10-1	ENST00000358432.5	37	c.1739-1	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742538	0.69418	.	.	ENSG00000142627	ENST00000358432	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6888	0.85316	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA2	16332689	1.000000	0.71417	0.992000	0.48379	0.845000	0.48019	6.090000	0.71397	2.719000	0.93026	0.591000	0.81541	.	EPHA2	-	-		0.567	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	C	NM_004431	Intron	16460102	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	splice_site	SNP	1.000	A
EPHA2	1969	genome.wustl.edu	37	1	16475389	16475389	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:16475389G>C	ENST00000358432.5	-	3	461	c.307C>G	c.(307-309)Cgt>Ggt	p.R103G	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	103	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TTGCAGTCACGTACAGTAAAC	0.557																																																	0													97.0	82.0	87.0					1																	16475389		2203	4300	6503	SO:0001583	missense	1969			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.307C>G	1.37:g.16475389G>C	ENSP00000351209:p.Arg103Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.R103G	ENST00000358432.5	37	c.307	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691447	0.68271	.	.	ENSG00000142627	ENST00000358432	T	0.05786	3.39	5.35	5.35	0.76521	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000055	T	0.34803	0.0910	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.42799	-0.9430	10	0.87932	D	0	.	16.5455	0.84444	0.0:0.0:1.0:0.0	.	103;103	B5A968;P29317	.;EPHA2_HUMAN	G	103	ENSP00000351209:R103G	ENSP00000351209:R103G	R	-	1	0	EPHA2	16347976	1.000000	0.71417	0.987000	0.45799	0.683000	0.39861	4.006000	0.57083	2.503000	0.84419	0.561000	0.74099	CGT	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom		0.557	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	G	NM_004431		16475389	-1	no_errors	ENST00000358432	ensembl	human	known	70_37	missense	SNP	1.000	C
EPHB4	2050	genome.wustl.edu	37	7	100414848	100414848	+	Silent	SNP	G	G	A	rs148818692		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:100414848G>A	ENST00000358173.3	-	8	2022	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	EPHB4_ENST00000477446.1_Intron|EPHB4_ENST00000360620.3_Silent_p.F518F	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	518	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTTCCTGGCCGAAGGGCCCGT	0.652																																					GBM(200;2113 3072 25865 52728)												0								G		0,4404		0,0,2202	18.0	19.0	18.0		1554	-6.7	0.5	7	dbSNP_134	18	1,8597		0,1,4298	no	coding-synonymous	EPHB4	NM_004444.4		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		518/988	100414848	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1554C>T	7.37:g.100414848G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F518	ENST00000358173.3	37	c.1554	CCDS5706.1	7																																																																																			EPHB4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.652	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	G	NM_004444		100414848	-1	no_errors	ENST00000358173	ensembl	human	known	70_37	silent	SNP	0.757	A
EPS8L2	64787	genome.wustl.edu	37	11	709426	709426	+	Missense_Mutation	SNP	G	G	C	rs558489382		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:709426G>C	ENST00000533256.1	+	3	394	c.19G>C	c.(19-21)Gtg>Ctg	p.V7L	EPS8L2_ENST00000530636.1_Missense_Mutation_p.V7L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.V7L|EPS8L2_ENST00000318562.8_Missense_Mutation_p.V7L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	7					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCGGGGCCGTGAGCTGCTG	0.682																																																	0													28.0	31.0	30.0					11																	709426		2175	4286	6461	SO:0001583	missense	64787			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.19G>C	11.37:g.709426G>C	ENSP00000435585:p.Val7Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.V7L	ENST00000533256.1	37	c.19	CCDS31328.1	11	.	.	.	.	.	.	.	.	.	.	G	0.111	-1.138888	0.01742	.	.	ENSG00000177106	ENST00000524763;ENST00000527199;ENST00000318562;ENST00000533256;ENST00000534755;ENST00000533500;ENST00000531348;ENST00000530636;ENST00000526198	T;T;T;T;T;T	0.40225	1.04;2.12;2.12;1.04;2.12;2.12	2.78	-3.07	0.05363	.	0.690561	0.12147	N	0.495306	T	0.20088	0.0483	N	0.22421	0.69	0.09310	N	1	B;B;B	0.15473	0.0;0.013;0.0	B;B;B	0.10450	0.0;0.005;0.0	T	0.24012	-1.0172	10	0.15499	T	0.54	-9.2729	3.7937	0.08732	0.3475:0.3875:0.2651:0.0	.	7;35;7	B7ZKL3;B4DFD2;Q9H6S3	.;.;ES8L2_HUMAN	L	7	ENSP00000435128:V7L;ENSP00000320828:V7L;ENSP00000435585:V7L;ENSP00000432765:V7L;ENSP00000436035:V7L;ENSP00000436230:V7L	ENSP00000320828:V7L	V	+	1	0	EPS8L2	699426	0.032000	0.19561	0.018000	0.16275	0.002000	0.02628	-0.054000	0.11826	-0.621000	0.05633	-1.234000	0.01563	GTG	EPS8L2	-	NULL		0.682	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPS8L2	HGNC	protein_coding	OTTHUMT00000382344.1	G	NM_022772		709426	+1	no_errors	ENST00000318562	ensembl	human	known	70_37	missense	SNP	0.020	C
ESCO2	157570	genome.wustl.edu	37	8	27633891	27633891	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:27633891C>T	ENST00000305188.8	+	3	304	c.66C>T	c.(64-66)ttC>ttT	p.F22F	RNU6-1276P_ENST00000365372.1_RNA|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	22					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TTTTACACTTCACTGAAAATC	0.313									SC Phocomelia syndrome																																								0													27.0	29.0	28.0					8																	27633891		2199	4299	6498	SO:0001819	synonymous_variant	157570	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.66C>T	8.37:g.27633891C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW59|Q49AP4	Silent	SNP	NULL	p.F22	ENST00000305188.8	37	c.66	CCDS34872.1	8																																																																																			ESCO2	-	NULL		0.313	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	HGNC	protein_coding	OTTHUMT00000376276.1	C	NM_001017420		27633891	+1	no_errors	ENST00000305188	ensembl	human	known	70_37	silent	SNP	0.089	T
ESPNL	339768	genome.wustl.edu	37	2	239040199	239040199	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:239040199C>T	ENST00000343063.3	+	9	3107	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Silent_p.L580L|ESPNL_ENST00000409169.1_Silent_p.L904L	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	948										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGACCCTGCTCGGGCCCCTGC	0.697																																																	0													13.0	15.0	14.0					2																	239040199		2193	4287	6480	SO:0001819	synonymous_variant	339768			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2844C>T	2.37:g.239040199C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L948	ENST00000343063.3	37	c.2844	CCDS2525.1	2																																																																																			ESPNL	-	NULL		0.697	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPNL	HGNC	protein_coding	OTTHUMT00000257164.2	C	NM_194312		239040199	+1	no_errors	ENST00000343063	ensembl	human	known	70_37	silent	SNP	0.000	T
F13A1	2162	genome.wustl.edu	37	6	6174946	6174946	+	Silent	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:6174946G>T	ENST00000264870.3	-	12	1879	c.1614C>A	c.(1612-1614)atC>atA	p.I538I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	538					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCCGGAAGGTGATGGAGAGCT	0.493																																																	0													290.0	231.0	251.0					6																	6174946		2203	4300	6503	SO:0001819	synonymous_variant	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1614C>A	6.37:g.6174946G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.I538	ENST00000264870.3	37	c.1614	CCDS4496.1	6																																																																																			F13A1	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.493	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	G	NM_000129		6174946	-1	no_errors	ENST00000264870	ensembl	human	known	70_37	silent	SNP	1.000	T
FAM115C	285966	genome.wustl.edu	37	7	143400364	143400364	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:143400364G>A	ENST00000441159.2	+	2	343	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	FAM115C_ENST00000357344.4_Missense_Mutation_p.V93M|FAM115C_ENST00000444908.2_Missense_Mutation_p.V93M|FAM115C_ENST00000411497.2_Intron			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	93					hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						TGGGGCTCCCGTGGGAGTGCA	0.582																																																	0													54.0	62.0	60.0					7																	143400364		1587	3583	5170	SO:0001583	missense	285966			AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.277G>A	7.37:g.143400364G>A	ENSP00000404265:p.Val93Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Missense_Mutation	SNP	NULL	p.V93M	ENST00000441159.2	37	c.277		7	.	.	.	.	.	.	.	.	.	.	G	7.602	0.672983	0.14776	.	.	ENSG00000170379	ENST00000444908;ENST00000357344;ENST00000441159	T;T;T	0.44083	0.93;0.93;0.93	3.92	-2.14	0.07123	.	0.392282	0.25964	N	0.027164	T	0.56292	0.1975	M	0.76838	2.35	0.09310	N	1	D	0.63046	0.992	P	0.61592	0.891	T	0.56553	-0.7960	10	0.62326	D	0.03	-0.0445	11.6648	0.51368	0.3578:0.0:0.6422:0.0	.	93	A6NFQ2-2	.	M	93	ENSP00000412724:V93M;ENSP00000349902:V93M;ENSP00000404265:V93M	ENSP00000349902:V93M	V	+	1	0	FAM115C	143031297	0.019000	0.18553	0.000000	0.03702	0.066000	0.16364	0.348000	0.20031	-1.194000	0.02684	-1.842000	0.00583	GTG	FAM115C	-	NULL		0.582	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	HGNC	protein_coding	OTTHUMT00000330287.1	G	NM_173678		143400364	+1	no_errors	ENST00000441159	ensembl	human	known	70_37	missense	SNP	0.000	A
FAM178A	55719	genome.wustl.edu	37	10	102684014	102684014	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:102684014C>G	ENST00000238961.4	+	5	1798	c.1256C>G	c.(1255-1257)tCt>tGt	p.S419C	FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S419C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	419						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GGCCACCATTCTACCAGGAAT	0.443																																																	0													122.0	125.0	124.0					10																	102684014		2203	4300	6503	SO:0001583	missense	55719			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1256C>G	10.37:g.102684014C>G	ENSP00000238961:p.Ser419Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	NULL	p.S419C	ENST00000238961.4	37	c.1256	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528932	0.44969	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.53206	0.63;1.3;1.29	5.1	3.22	0.36961	.	0.306936	0.24481	N	0.038143	T	0.42607	0.1210	N	0.24115	0.695	0.33250	D	0.558348	D;D;D;D	0.61697	0.99;0.969;0.969;0.99	P;P;P;P	0.56474	0.799;0.639;0.639;0.799	T	0.54761	-0.8245	10	0.56958	D	0.05	-5.8774	5.8112	0.18467	0.193:0.7115:0.0:0.0955	.	68;419;419;419	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	C	419	ENSP00000359294:S419C;ENSP00000238961:S419C;ENSP00000359292:S419C	ENSP00000238961:S419C	S	+	2	0	FAM178A	102674004	0.982000	0.34865	1.000000	0.80357	0.985000	0.73830	0.836000	0.27545	1.504000	0.48704	0.650000	0.86243	TCT	FAM178A	-	NULL		0.443	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	C			102684014	+1	no_errors	ENST00000370269	ensembl	human	known	70_37	missense	SNP	0.990	G
FAM184A	79632	genome.wustl.edu	37	6	119344130	119344130	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:119344130G>A	ENST00000338891.7	-	3	1573	c.1130C>T	c.(1129-1131)tCa>tTa	p.S377L	FAM184A_ENST00000352896.5_Missense_Mutation_p.S257L|FAM184A_ENST00000368475.4_Missense_Mutation_p.S257L|FAM184A_ENST00000522284.1_Missense_Mutation_p.S257L|FAM184A_ENST00000521531.1_Missense_Mutation_p.S377L|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	377						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GACAAGATCTGAAGCTTGCTG	0.398																																																	0													165.0	157.0	160.0					6																	119344130		1929	4156	6085	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1130C>T	6.37:g.119344130G>A	ENSP00000342604:p.Ser377Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.S377L	ENST00000338891.7	37	c.1130	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458238	0.84317	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.73	5.73	0.89815	.	0.059175	0.64402	D	0.000004	T	0.24547	0.0595	L	0.47716	1.5	0.52501	D	0.999954	P;P;P	0.43662	0.775;0.465;0.814	B;B;B	0.39217	0.23;0.178;0.294	T	0.02184	-1.1199	10	0.34782	T	0.22	-9.0749	19.9133	0.97031	0.0:0.0:1.0:0.0	.	377;257;377	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	L	377;257;257;377;257	ENSP00000342604:S377L;ENSP00000326608:S257L;ENSP00000357460:S257L;ENSP00000430442:S377L;ENSP00000429826:S257L	ENSP00000342604:S377L	S	-	2	0	FAM184A	119385829	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.241000	0.95402	2.721000	0.93114	0.655000	0.94253	TCA	FAM184A	-	NULL		0.398	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	G	NM_024581		119344130	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	missense	SNP	1.000	A
BRINP2	57795	genome.wustl.edu	37	1	177250105	177250105	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:177250105C>G	ENST00000361539.4	+	8	2105	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	598					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GGCAGCCACTCTGAGAGCTGG	0.552																																																	0													57.0	56.0	56.0					1																	177250105		2203	4300	6503	SO:0001583	missense	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1793C>G	1.37:g.177250105C>G	ENSP00000354481:p.Ser598Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S598C	ENST00000361539.4	37	c.1793	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579965	0.65992	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.20463	2.07	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.50491	-0.8822	10	0.87932	D	0	-12.8401	18.4386	0.90656	0.0:1.0:0.0:0.0	.	493;598	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	C	351;598	ENSP00000354481:S598C	ENSP00000354481:S598C	S	+	2	0	FAM5B	175516728	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	7.707000	0.84623	2.443000	0.82685	0.313000	0.20887	TCT	FAM5B	-	NULL		0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	C	NM_021165		177250105	+1	no_errors	ENST00000361539	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM73B	84895	genome.wustl.edu	37	9	131832688	131832688	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:131832688G>A	ENST00000358369.4	+	16	1964	c.1738G>A	c.(1738-1740)Ggg>Agg	p.G580R	FAM73B_ENST00000406926.2_3'UTR|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	580					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						AGGCGTGAATGGGGCGCTGCC	0.711																																																	0													11.0	12.0	12.0					9																	131832688		2188	4267	6455	SO:0001583	missense	84895			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1738G>A	9.37:g.131832688G>A	ENSP00000351138:p.Gly580Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	pfam_DUF2217	p.G580R	ENST00000358369.4	37	c.1738	CCDS6917.1	9	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444875	0.63178	.	.	ENSG00000148343	ENST00000358369	T	0.29397	1.57	5.67	5.67	0.87782	.	0.196946	0.53938	D	0.000054	T	0.54711	0.1875	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.972	T	0.54556	-0.8276	10	0.87932	D	0	.	18.7617	0.91855	0.0:0.0:1.0:0.0	.	156;580	Q96NP4;Q7L4E1	.;FA73B_HUMAN	R	580	ENSP00000351138:G580R	ENSP00000351138:G580R	G	+	1	0	FAM73B	130872509	1.000000	0.71417	0.835000	0.33067	0.025000	0.11179	7.443000	0.80521	2.668000	0.90789	0.655000	0.94253	GGG	FAM73B	-	NULL		0.711	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7	G	NM_032809		131832688	+1	no_errors	ENST00000358369	ensembl	human	known	70_37	missense	SNP	0.996	A
FARS2	10667	genome.wustl.edu	37	6	5613479	5613479	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:5613479C>G	ENST00000324331.6	+	6	1479	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	FARS2_ENST00000274680.4_Missense_Mutation_p.F381L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	381	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AAAATGATTTCTATGACTTAG	0.383																																																	0													135.0	129.0	131.0					6																	5613479		2203	4300	6503	SO:0001583	missense	10667			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1143C>G	6.37:g.5613479C>G	ENSP00000316335:p.Phe381Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito	p.F381L	ENST00000324331.6	37	c.1143	CCDS4494.1	6	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774966	0.70107	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.72835	-0.69;-0.69	5.53	5.53	0.82687	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.061993	0.64402	D	0.000003	T	0.73885	0.3644	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68492	-0.5394	10	0.23891	T	0.37	-9.2999	18.4818	0.90815	0.0:1.0:0.0:0.0	.	381	O95363	SYFM_HUMAN	L	381	ENSP00000274680:F381L;ENSP00000316335:F381L	ENSP00000274680:F381L	F	+	3	2	FARS2	5558478	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.426000	0.66476	2.605000	0.88082	0.655000	0.94253	TTC	FARS2	-	pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,tigrfam_Phe-tRNA-synth_IIc_mito		0.383	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FARS2	HGNC	protein_coding	OTTHUMT00000467790.1	C	NM_006567		5613479	+1	no_errors	ENST00000274680	ensembl	human	known	70_37	missense	SNP	1.000	G
FAT4	79633	genome.wustl.edu	37	4	126238993	126238993	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:126238993C>G	ENST00000394329.3	+	1	1440	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	476	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTGTCTTTTCACAGCAAGTG	0.547											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													44.0	48.0	47.0					4																	126238993		2186	4292	6478	SO:0001587	stop_gained	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1427C>G	4.37:g.126238993C>G	ENSP00000377862:p.Ser476*	Somatic	1548	WXS	Illumina HiSeq	Phase_IV	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S476*	ENST00000394329.3	37	c.1427	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	37	6.007837	0.97195	.	.	ENSG00000196159	ENST00000394329	.	.	.	4.66	3.79	0.43588	.	0.926711	0.08681	U	0.909431	.	.	.	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	7.5606	0.27849	0.4152:0.3719:0.2129:0.0	.	.	.	.	X	476	.	ENSP00000377862:S476X	S	+	2	0	FAT4	126458443	0.991000	0.36638	0.959000	0.39883	0.994000	0.84299	2.689000	0.46993	1.122000	0.41944	0.561000	0.74099	TCA	FAT4	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.547	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126238993	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	nonsense	SNP	0.080	G
FBN1	2200	genome.wustl.edu	37	15	48796084	48796084	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:48796084G>C	ENST00000316623.5	-	17	2468	c.2013C>G	c.(2011-2013)atC>atG	p.I671M		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	671	TB 3.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAAAGGTTTGATACACTGGC	0.478																																																	0													167.0	142.0	151.0					15																	48796084		2197	4296	6493	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2013C>G	15.37:g.48796084G>C	ENSP00000325527:p.Ile671Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.I671M	ENST00000316623.5	37	c.2013	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996293	0.35226	.	.	ENSG00000166147	ENST00000316623	D	0.92495	-3.05	6.06	1.9	0.25705	Matrix fibril-associated (3);TGF-beta binding (1);	0.118411	0.56097	D	0.000024	T	0.81640	0.4865	N	0.08118	0	0.80722	D	1	B	0.17465	0.022	B	0.28991	0.097	T	0.70281	-0.4915	10	0.40728	T	0.16	.	6.8716	0.24123	0.0697:0.4239:0.3906:0.1158	.	671	P35555	FBN1_HUMAN	M	671	ENSP00000325527:I671M	ENSP00000325527:I671M	I	-	3	3	FBN1	46583376	0.782000	0.28689	1.000000	0.80357	0.961000	0.63080	-0.035000	0.12205	0.362000	0.24319	-0.122000	0.15005	ATC	FBN1	-	pfam_TB_dom,superfamily_TB_dom,pirsf_FBN		0.478	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	G			48796084	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	missense	SNP	0.991	C
FBN2	2201	genome.wustl.edu	37	5	127866340	127866340	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:127866340G>A	ENST00000508053.1	-	9	1358	c.384C>T	c.(382-384)aaC>aaT	p.N128N	FBN2_ENST00000262464.4_Silent_p.N128N|FBN2_ENST00000508989.1_Intron			P35556	FBN2_HUMAN	fibrillin 2	128	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAGTACACATGTTAGGACGGG	0.348																																																	0													118.0	108.0	111.0					5																	127866340		2203	4300	6503	SO:0001819	synonymous_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.384C>T	5.37:g.127866340G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DU01|Q59ES6	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.N128	ENST00000508053.1	37	c.384	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN		0.348	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	G	NM_001999		127866340	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	silent	SNP	1.000	A
FBXO5	26271	genome.wustl.edu	37	6	153304092	153304092	+	Start_Codon_SNP	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:153304092C>G	ENST00000229758.3	-	1	61	c.3G>C	c.(1-3)atG>atC	p.M1I	RP1-101K10.6_ENST00000442269.1_RNA|FBXO5_ENST00000367241.3_Intron	NM_012177.3	NP_036309.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	1					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibition of mitotic anaphase-promoting complex activity (GO:0060565)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|negative regulation of meiosis (GO:0045835)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|oocyte maturation (GO:0001556)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly involved in female meiosis I (GO:0007057)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GGCGCCGGCTCATGCCAGCCG	0.692																																					NSCLC(121;372 1757 17721 17977 29669)												0													3.0	5.0	4.0					6																	153304092		1817	3681	5498	SO:0001582	initiator_codon_variant	26271			AF129535	CCDS5242.1, CCDS47501.1	6q25-q26	2008-02-05	2004-06-15		ENSG00000112029	ENSG00000112029		"""F-boxes /  ""other"""""	13584	protein-coding gene	gene with protein product		606013	"""F-box only protein 5"""			10531035, 10531037	Standard	NM_012177		Approved	FBX5, Fbxo31, EMI1	uc003qpg.3	Q9UKT4	OTTHUMG00000015854	ENST00000229758.3:c.3G>C	6.37:g.153304092C>G	ENSP00000229758:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNX5|Q5TF47|Q8WV29|Q9UGC8	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	p.M1I	ENST00000229758.3	37	c.3	CCDS5242.1	6	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556939	0.65425	.	.	ENSG00000112029	ENST00000229758	T	0.31510	1.49	5.34	5.34	0.76211	.	0.288442	0.25081	N	0.033287	T	0.16938	0.0407	.	.	.	0.80722	D	1	B	0.30914	0.3	B	0.25405	0.06	T	0.04811	-1.0925	9	0.87932	D	0	-4.6425	15.7643	0.78114	0.0:1.0:0.0:0.0	.	1	Q9UKT4	FBX5_HUMAN	I	1	ENSP00000229758:M1I	ENSP00000229758:M1I	M	-	3	0	FBXO5	153345785	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	2.188000	0.42612	2.495000	0.84180	0.655000	0.94253	ATG	FBXO5	-	NULL		0.692	FBXO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO5	HGNC	protein_coding	OTTHUMT00000042757.1	C		Missense_Mutation	153304092	-1	no_errors	ENST00000229758	ensembl	human	known	70_37	missense	SNP	1.000	G
FBXW7	55294	genome.wustl.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	A	rs149680468		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:153247289G>A	ENST00000281708.4	-	10	2742	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)											167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>T	4.37:g.153247289G>A	ENSP00000281708:p.Arg505Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R505C	ENST00000281708.4	37	c.1513	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722220	0.68959	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	505;387;425;329	ENSP00000281708:R505C;ENSP00000296555:R387C;ENSP00000263981:R425C;ENSP00000377528:R329C	ENSP00000263981:R425C	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153247289	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	A
FLJ40194	124871	genome.wustl.edu	37	17	47329722	47329722	+	RNA	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:47329722C>T	ENST00000322227.2	+	0	179																											CCAGCAGTTTCACTGATGCTC	0.577																																																	0																																												124871																															17.37:g.47329722C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000322227.2	37	NULL		17																																																																																			RP1-62O9.3	-	-		0.577	RP1-62O9.3-001	KNOWN	basic	lincRNA	FLJ40194	Clone_based_vega_gene	processed_transcript	OTTHUMT00000364528.1	C			47329722	+1	no_errors	ENST00000322227	ensembl	human	known	70_37	rna	SNP	0.000	T
PDPK1	5170	genome.wustl.edu	37	16	2608019	2608019	+	Intron	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:2608019C>T	ENST00000342085.4	+	2	434				RP11-20I23.11_ENST00000569220.1_RNA|RP11-20I23.13_ENST00000563449.2_RNA|PDPK1_ENST00000268673.7_Intron|PDPK1_ENST00000441549.3_Intron|PDPK1_ENST00000389224.3_Intron|PDPK1_ENST00000354836.5_Intron	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1						actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TGGGGAGGCTCACCTTCCTCG	0.562																																																	0																																										SO:0001627	intron_variant	645644			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.285+55C>T	16.37:g.2608019C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	RNA	SNP	-	NULL	ENST00000342085.4	37	NULL	CCDS10472.1	16																																																																																			RP11-20I23.8	-	-		0.562	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLJ42627	Clone_based_vega_gene	protein_coding	OTTHUMT00000250831.3	C			2608019	-1	no_errors	ENST00000562485	ensembl	human	known	70_37	rna	SNP	0.000	T
FMO2	2327	genome.wustl.edu	37	1	171165850	171165850	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:171165850C>T	ENST00000209929.7	+	4	542	c.384C>T	c.(382-384)gtC>gtT	p.V128V	RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Silent_p.V128V|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	128					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGAAGGTTGTCACTCAGAGCA	0.458																																																	0													153.0	127.0	136.0					1																	171165850		2203	4300	6503	SO:0001819	synonymous_variant	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.384C>T	1.37:g.171165850C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XR0	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.V128	ENST00000209929.7	37	c.384	CCDS1293.1	1																																																																																			FMO2	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase		0.458	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	C	NM_001460		171165850	+1	no_errors	ENST00000209929	ensembl	human	known	70_37	silent	SNP	0.001	T
FNDC1	84624	genome.wustl.edu	37	6	159660765	159660765	+	Missense_Mutation	SNP	C	C	T	rs372608984		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:159660765C>T	ENST00000297267.9	+	14	4597	c.4397C>T	c.(4396-4398)cCg>cTg	p.P1466L	FNDC1-IT1_ENST00000419703.1_RNA|FNDC1_ENST00000340366.6_Missense_Mutation_p.P1403L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1466	Thr-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		actacaaccccgaggcccacc	0.642																																																	0								C	LEU/PRO	0,3536		0,0,1768	52.0	88.0	76.0		4397	-4.1	0.0	6		76	1,7117		0,1,3558	no	missense	FNDC1	NM_032532.2	98	0,1,5326	TT,TC,CC		0.014,0.0,0.0094	benign	1466/1895	159660765	1,10653	1768	3559	5327	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4397C>T	6.37:g.159660765C>T	ENSP00000297267:p.Pro1466Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P1466L	ENST00000297267.9	37	c.4397	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	3.581	-0.085562	0.07097	0.0	1.4E-4	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08193	3.12;3.95	4.44	-4.1	0.03940	.	1.160310	0.06430	N	0.723869	T	0.01320	0.0043	L	0.28115	0.83	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.47315	-0.9127	10	0.30078	T	0.28	0.3681	3.561	0.07882	0.0966:0.4788:0.1881:0.2365	.	1403;1466	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	L	1466;1403	ENSP00000297267:P1466L;ENSP00000342460:P1403L	ENSP00000297267:P1466L	P	+	2	0	FNDC1	159580755	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.548000	0.23314	-1.139000	0.02881	-3.064000	0.00068	CCG	FNDC1	-	NULL		0.642	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	C	NM_032532		159660765	+1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.000	T
FOXA2	3170	genome.wustl.edu	37	20	22562711	22562711	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:22562711G>A	ENST00000377115.4	-	3	1332	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	FOXA2_ENST00000419308.2_Missense_Mutation_p.S390L	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	384	Transactivation domain 2. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGCTGCTCCGAGGACATGAG	0.642																																																	0													137.0	121.0	127.0					20																	22562711		2203	4300	6503	SO:0001583	missense	3170			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.1151C>T	20.37:g.22562711G>A	ENSP00000366319:p.Ser384Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUW4|Q96DF7	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S390L	ENST00000377115.4	37	c.1169	CCDS13147.1	20	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103938	0.56291	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	T;T;T	0.48201	0.82;0.82;0.82	4.15	4.15	0.48705	Forkhead box protein, C-terminal (1);	0.000000	0.53938	U	0.000049	T	0.66809	0.2827	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.70483	-0.4859	10	0.56958	D	0.05	.	16.566	0.84599	0.0:0.0:1.0:0.0	.	384;390	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	L	384;384;390;270	ENSP00000366319:S384L;ENSP00000400341:S384L;ENSP00000315955:S390L	ENSP00000315955:S390L	S	-	2	0	FOXA2	22510711	1.000000	0.71417	0.958000	0.39756	0.986000	0.74619	9.531000	0.98054	2.288000	0.76882	0.486000	0.48141	TCG	FOXA2	-	pfam_Forkhead_box_C		0.642	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	HGNC	protein_coding	OTTHUMT00000078289.1	G			22562711	-1	no_errors	ENST00000319993	ensembl	human	known	70_37	missense	SNP	1.000	A
G2E3	55632	genome.wustl.edu	37	14	31061590	31061590	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:31061590G>A	ENST00000206595.6	+	5	453	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.R54Q|G2E3_ENST00000553504.1_Missense_Mutation_p.R130Q	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	100					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CGATGTAAACGAAGTTATCAT	0.358																																																	0													126.0	120.0	122.0					14																	31061590		2203	4300	6503	SO:0001583	missense	55632			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.299G>A	14.37:g.31061590G>A	ENSP00000206595:p.Arg100Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.R100Q	ENST00000206595.6	37	c.299	CCDS9638.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.249980	0.95305	.	.	ENSG00000092140	ENST00000206595;ENST00000550944;ENST00000438909;ENST00000553504;ENST00000554714;ENST00000547532	T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.93	5.93	0.95920	Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);	0.204872	0.46758	D	0.000269	T	0.81297	0.4793	L	0.48174	1.505	0.42714	D	0.993652	P;D	0.89917	0.892;1.0	B;D	0.81914	0.419;0.995	T	0.79371	-0.1831	10	0.45353	T	0.12	-8.4491	20.3495	0.98807	0.0:0.0:1.0:0.0	.	54;100	B4DIF9;Q7L622	.;G2E3_HUMAN	Q	100;100;54;130;100;100	ENSP00000206595:R100Q;ENSP00000448745:R100Q;ENSP00000391068:R54Q;ENSP00000451653:R130Q;ENSP00000451147:R100Q;ENSP00000446615:R100Q	ENSP00000206595:R100Q	R	+	2	0	G2E3	30131341	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.795000	0.69074	2.814000	0.96858	0.591000	0.81541	CGA	G2E3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD		0.358	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2	G	NM_017769		31061590	+1	no_errors	ENST00000206595	ensembl	human	known	70_37	missense	SNP	1.000	A
FRMD6	122786	genome.wustl.edu	37	14	52194648	52194648	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:52194648G>A	ENST00000344768.5	+	14	1966	c.1770G>A	c.(1768-1770)caG>caA	p.Q590Q	FRMD6_ENST00000356218.4_Silent_p.Q582Q|FRMD6_ENST00000395718.2_Silent_p.Q582Q|FRMD6_ENST00000554167.1_Silent_p.Q513Q|FRMD6_ENST00000553556.1_Silent_p.Q232Q			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	590					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GCTTGGCCCAGCAGTGCATCA	0.458																																																	0													119.0	96.0	104.0					14																	52194648		2203	4300	6503	SO:0001819	synonymous_variant	122786			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1770G>A	14.37:g.52194648G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.Q590	ENST00000344768.5	37	c.1770	CCDS58318.1	14																																																																																			FRMD6	-	NULL		0.458	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	G	NM_152330		52194648	+1	no_errors	ENST00000344768	ensembl	human	known	70_37	silent	SNP	1.000	A
GAL3ST2	64090	genome.wustl.edu	37	2	242742869	242742869	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:242742869G>A	ENST00000192314.6	+	4	616	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	162					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CCCGCCTTCCGGGGCGCCCCG	0.607																																																	0													29.0	31.0	30.0					2																	242742869		2202	4298	6500	SO:0001583	missense	64090			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.485G>A	2.37:g.242742869G>A	ENSP00000192314:p.Arg162Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RK0|Q57Z52	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.R162Q	ENST00000192314.6	37	c.485	CCDS33427.1	2	.	.	.	.	.	.	.	.	.	.	G	6.107	0.388083	0.11581	.	.	ENSG00000154252	ENST00000192314	T	0.17054	2.3	3.86	-2.89	0.05665	.	1.159560	0.06386	N	0.716150	T	0.08133	0.0203	N	0.16567	0.415	0.09310	N	1	B	0.13145	0.007	B	0.17722	0.019	T	0.38520	-0.9657	10	0.14252	T	0.57	-21.2259	3.2922	0.06953	0.3542:0.1038:0.4353:0.1068	.	162	Q9H3Q3	G3ST2_HUMAN	Q	162	ENSP00000192314:R162Q	ENSP00000192314:R162Q	R	+	2	0	GAL3ST2	242391542	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.375000	0.07475	-0.893000	0.03930	-2.157000	0.00329	CGG	GAL3ST2	-	pfam_Gal-3-0_sulfotransfrase		0.607	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST2	HGNC	protein_coding	OTTHUMT00000322792.1	G	NM_022134		242742869	+1	no_errors	ENST00000192314	ensembl	human	known	70_37	missense	SNP	0.000	A
GALNT16	57452	genome.wustl.edu	37	14	69726943	69726943	+	5'UTR	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:69726943G>A	ENST00000337827.4	+	0	263				GALNT16_ENST00000554858.1_3'UTR|GALNT16_ENST00000448469.3_5'UTR|RP11-363J20.2_ENST00000556316.1_lincRNA|GALNT16_ENST00000553669.1_5'Flank	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16						protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGCTGCGAGCGCCCCCGCCCC	0.692																																																	0																																										SO:0001623	5_prime_UTR_variant	57452			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.-65G>A	14.37:g.69726943G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4KMG3|Q58A55|Q9ULT9	RNA	SNP	-	NULL	ENST00000337827.4	37	NULL	CCDS32107.1	14																																																																																			GALNTL1	-	-		0.692	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL1	HGNC	protein_coding	OTTHUMT00000412434.1	G	NM_001168368		69726943	+1	no_errors	ENST00000554317	ensembl	human	putative	70_37	rna	SNP	0.082	A
GBX2	2637	genome.wustl.edu	37	2	237074658	237074658	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:237074658C>T	ENST00000306318.4	-	2	1343	c.946G>A	c.(946-948)Gag>Aag	p.E316K	GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR|AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	316					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGGGAGGGCTCCCCTGTCTTG	0.592																																																	0													129.0	117.0	121.0					2																	237074658		2203	4300	6503	SO:0001583	missense	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.946G>A	2.37:g.237074658C>T	ENSP00000302251:p.Glu316Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E316K	ENST00000306318.4	37	c.946	CCDS2515.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.487875	0.96323	.	.	ENSG00000168505	ENST00000306318	D	0.91740	-2.9	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.93552	0.7942	L	0.54323	1.7	0.80722	D	1	P	0.51933	0.949	P	0.55222	0.771	D	0.93972	0.7250	10	0.54805	T	0.06	-18.6999	17.5569	0.87894	0.0:1.0:0.0:0.0	.	316	P52951	GBX2_HUMAN	K	316	ENSP00000302251:E316K	ENSP00000302251:E316K	E	-	1	0	GBX2	236739397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.692000	0.84203	2.133000	0.65898	0.561000	0.74099	GAG	GBX2	-	NULL		0.592	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBX2	HGNC	protein_coding	OTTHUMT00000257078.3	C	NM_001485		237074658	-1	no_errors	ENST00000306318	ensembl	human	known	70_37	missense	SNP	1.000	T
GDF2	2658	genome.wustl.edu	37	10	48414295	48414295	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:48414295G>A	ENST00000249598.1	-	2	732	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	191					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGGACACCAGGAAGGTCTTGG	0.542																																																	0													71.0	62.0	65.0					10																	48414295		2203	4300	6503	SO:0001819	synonymous_variant	2658			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.573C>T	10.37:g.48414295G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSQ9|Q9Y571	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.F191	ENST00000249598.1	37	c.573	CCDS7219.1	10																																																																																			GDF2	-	pfam_TGF-b_N		0.542	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	HGNC	protein_coding	OTTHUMT00000047891.1	G	NM_016204		48414295	-1	no_errors	ENST00000249598	ensembl	human	known	70_37	silent	SNP	0.964	A
GH2	2689	genome.wustl.edu	37	17	61958007	61958007	+	Intron	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:61958007G>A	ENST00000423893.2	-	4	518				GH2_ENST00000449787.2_Intron|GH2_ENST00000332800.7_Missense_Mutation_p.S194L|GH2_ENST00000456543.2_Intron			P01242	SOM2_HUMAN	growth hormone 2						JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAGGGGAAATGAAGAATACGG	0.557																																																	0													86.0	88.0	88.0					17																	61958007		2203	4300	6503	SO:0001627	intron_variant	2689			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.456+124C>T	17.37:g.61958007G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.S194L	ENST00000423893.2	37	c.581	CCDS11647.1	17	.	.	.	.	.	.	.	.	.	.	g	11.25	1.583343	0.28268	.	.	ENSG00000136487	ENST00000332800	D	0.88277	-2.36	2.46	0.246	0.15516	.	0.565183	0.18784	N	0.131241	T	0.79221	0.4409	.	.	.	0.09310	N	1	B	0.19817	0.039	B	0.08055	0.003	T	0.68708	-0.5337	9	0.87932	D	0	.	3.1652	0.06533	0.1778:0.2885:0.5337:0.0	.	194	B1A4H7	.	L	194	ENSP00000333157:S194L	ENSP00000333157:S194L	S	-	2	0	GH2	59311739	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	0.167000	0.16602	0.333000	0.23563	0.306000	0.20318	TCA	GH2	-	NULL		0.557	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH2	HGNC	protein_coding	OTTHUMT00000417665.1	G	NM_002059		61958007	-1	no_errors	ENST00000332800	ensembl	human	known	70_37	missense	SNP	0.001	A
GJA1	2697	genome.wustl.edu	37	6	121768982	121768982	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:121768982C>T	ENST00000282561.3	+	2	1146	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	330					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ATCTCTAACTCCCATGCACAG	0.468																																																	0													77.0	79.0	78.0					6																	121768982		2203	4300	6503	SO:0001583	missense	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.989C>T	6.37:g.121768982C>T	ENSP00000282561:p.Ser330Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.S330F	ENST00000282561.3	37	c.989	CCDS5123.1	6	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292920	0.40594	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	T	0.81415	-1.49	4.88	4.88	0.63580	.	0.156786	0.41823	D	0.000803	T	0.70098	0.3185	N	0.24115	0.695	0.80722	D	1	P	0.34699	0.464	B	0.42738	0.396	T	0.74306	-0.3708	10	0.52906	T	0.07	.	18.5905	0.91210	0.0:1.0:0.0:0.0	.	330	P17302	CXA1_HUMAN	F	314;330	ENSP00000282561:S330F	ENSP00000282561:S330F	S	+	2	0	GJA1	121810681	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.278000	0.78587	2.694000	0.91930	0.585000	0.79938	TCC	GJA1	-	prints_Connexin43		0.468	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	C	NM_000165		121768982	+1	no_errors	ENST00000282561	ensembl	human	known	70_37	missense	SNP	1.000	T
GOLGA2P5	55592	genome.wustl.edu	37	12	100567160	100567160	+	RNA	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:100567160C>G	ENST00000397112.4	-	0	277				RP11-175P13.3_ENST00000548404.2_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						AGCAGCGTGTCCAGAGGGACC	0.522																																																	0																																												55592																															12.37:g.100567160C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NSV2	RNA	SNP	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2B	-	-		0.522	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000396439.2	C			100567160	-1	no_errors	ENST00000397112	ensembl	human	known	70_37	rna	SNP	0.000	G
GOLGA8M	653720	genome.wustl.edu	37	15	28948511	28948511	+	Missense_Mutation	SNP	T	T	C	rs368679251		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:28948511T>C	ENST00000563027.1	-	15	1321	c.1322A>G	c.(1321-1323)cAg>cGg	p.Q441R	AC055876.2_ENST00000459082.1_RNA|RN7SL719P_ENST00000487967.2_RNA					golgin A8 family, member M																		CGGCATGGGCTGAGGTGCCTC	0.627																																																	0																																										SO:0001583	missense	653720				CCDS61572.1	15q13.1	2014-03-21			ENSG00000188626	ENSG00000188626			44404	protein-coding gene	gene with protein product							Standard	NM_001282468		Approved			H3BSY2	OTTHUMG00000176338	ENST00000563027.1:c.1322A>G	15.37:g.28948511T>C	ENSP00000456927:p.Gln441Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.Q441R	ENST00000563027.1	37	c.1322		15																																																																																			GOLGA8M	-	NULL		0.627	GOLGA8M-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8M	HGNC	protein_coding	OTTHUMT00000431777.1	T			28948511	-1	no_errors	ENST00000563027	ensembl	human	novel	70_37	missense	SNP	0.001	C
GPAA1	8733	genome.wustl.edu	37	8	145139652	145139652	+	Silent	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:145139652C>G	ENST00000355091.4	+	8	1159	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L	GPAA1_ENST00000361036.6_Silent_p.L286L|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	346					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCGCAAGCTCAACCACCTCC	0.652																																																	0													68.0	76.0	73.0					8																	145139652		2050	4170	6220	SO:0001819	synonymous_variant	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1038C>G	8.37:g.145139652C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NSS0|Q9UQ31	Silent	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.L346	ENST00000355091.4	37	c.1038	CCDS43776.1	8																																																																																			GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1		0.652	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	C	NM_003801		145139652	+1	no_errors	ENST00000355091	ensembl	human	known	70_37	silent	SNP	1.000	G
GPI	2821	genome.wustl.edu	37	19	34857702	34857702	+	Silent	SNP	C	C	T	rs150838903		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:34857702C>T	ENST00000356487.5	+	3	469	c.228C>T	c.(226-228)ggC>ggT	p.G76G	GPI_ENST00000415930.3_Silent_p.G115G|GPI_ENST00000586425.1_Silent_p.G76G	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	76					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AGTCCAGGGGCGTGGAGGCCG	0.617																																																	0								C	,	2,4404	4.2+/-10.8	0,2,2201	79.0	83.0	81.0		228,345	-1.6	1.0	19	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GPI	NM_000175.3,NM_001184722.1	,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	,	76/559,115/570	34857702	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2821			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.228C>T	19.37:g.34857702C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	NULL	p.R62C	ENST00000356487.5	37	c.184	CCDS12437.1	19																																																																																			GPI	-	NULL		0.617	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	C			34857702	+1	no_errors	ENST00000586425	ensembl	human	known	70_37	missense	SNP	0.891	T
GPR179	440435	genome.wustl.edu	37	17	36485791	36485791	+	Missense_Mutation	SNP	C	C	T	rs368195290		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:36485791C>T	ENST00000342292.4	-	11	3681	c.3661G>A	c.(3661-3663)Ggg>Agg	p.G1221R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1221					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCTGCCACCCGACAGGGGTT	0.567																																																	0								C	ARG/GLY	1,3823		0,1,1911	102.0	110.0	108.0		3661	3.2	0.0	17		108	0,8262		0,0,4131	no	missense	GPR179	NM_001004334.2	125	0,1,6042	TT,TC,CC		0.0,0.0262,0.0083	probably-damaging	1221/2368	36485791	1,12085	1912	4131	6043	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3661G>A	17.37:g.36485791C>T	ENSP00000345060:p.Gly1221Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.G1221R	ENST00000342292.4	37	c.3661	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	5.162	0.215557	0.09810	2.62E-4	0.0	ENSG00000188888	ENST00000342292	T	0.50548	0.74	5.32	3.21	0.36854	.	0.130349	0.35708	N	0.003035	T	0.32071	0.0817	L	0.33485	1.01	0.09310	N	1	B	0.18968	0.032	B	0.09377	0.004	T	0.21449	-1.0245	10	0.59425	D	0.04	-14.7739	5.8183	0.18514	0.0:0.727:0.0:0.273	.	1221	Q6PRD1	GP179_HUMAN	R	1221	ENSP00000345060:G1221R	ENSP00000345060:G1221R	G	-	1	0	GPR179	33739317	0.000000	0.05858	0.018000	0.16275	0.007000	0.05969	0.354000	0.20146	1.477000	0.48234	0.407000	0.27541	GGG	GPR179	-	NULL		0.567	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36485791	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.000	T
GPR52	9293	genome.wustl.edu	37	1	174417843	174417843	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:174417843C>T	ENST00000367685.2	+	1	632	c.594C>T	c.(592-594)ctC>ctT	p.L198L	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	198					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CGTCTTGGCTCACCAGTGCCT	0.433																																					Ovarian(92;924 1390 1930 16467 40583)												0													321.0	281.0	295.0					1																	174417843		2203	4300	6503	SO:0001819	synonymous_variant	9293			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.594C>T	1.37:g.174417843C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75654|Q4VBL6|Q6ISM0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L198	ENST00000367685.2	37	c.594	CCDS30941.1	1																																																																																			GPR52	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.433	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1	C	NM_005684		174417843	+1	no_errors	ENST00000367685	ensembl	human	known	70_37	silent	SNP	0.982	T
GPR98	84059	genome.wustl.edu	37	5	89949139	89949139	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:89949139G>C	ENST00000405460.2	+	20	3844	c.3748G>C	c.(3748-3750)Gag>Cag	p.E1250Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1250					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAGTGTTTAGAGAGAGAAGT	0.443																																																	0													103.0	98.0	99.0					5																	89949139		1940	4149	6089	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3748G>C	5.37:g.89949139G>C	ENSP00000384582:p.Glu1250Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E1250Q	ENST00000405460.2	37	c.3748	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.53|15.53	2.861422|2.861422	0.51482|0.51482	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.26518|.	1.73|.	5.84|5.84	4.96|4.96	0.65561|0.65561	.|.	0.225346|.	0.53938|.	N|.	0.000054|.	T|T	0.62527|0.62527	0.2435|0.2435	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P|.	0.52316|.	0.952|.	P|.	0.47744|.	0.556|.	T|T	0.61232|0.61232	-0.7104|-0.7104	10|5	0.59425|.	D|.	0.04|.	.|.	10.574|10.574	0.45217|0.45217	0.0689:0.1339:0.7972:0.0|0.0689:0.1339:0.7972:0.0	.|.	1250|.	Q8WXG9|.	GPR98_HUMAN|.	Q|T	1250|838	ENSP00000384582:E1250Q|.	ENSP00000296619:E1250Q|.	E|R	+|+	1|2	0|0	GPR98|GPR98	89984895|89984895	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.321000|5.321000	0.65846|0.65846	1.574000|1.574000	0.49760|0.49760	0.637000|0.637000	0.83480|0.83480	GAG|AGA	GPR98	-	NULL		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89949139	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	C
GRM1	2911	genome.wustl.edu	37	6	146678717	146678717	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:146678717G>A	ENST00000282753.1	+	5	1724	c.1489G>A	c.(1489-1491)Gtt>Att	p.V497I	GRM1_ENST00000392299.2_Missense_Mutation_p.V497I|GRM1_ENST00000492807.2_Missense_Mutation_p.V497I|GRM1_ENST00000361719.2_Missense_Mutation_p.V497I|GRM1_ENST00000507907.1_Missense_Mutation_p.V497I|GRM1_ENST00000355289.4_Missense_Mutation_p.V497I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	497					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTATGTGCACGTTGGAACCTG	0.413																																																	0													187.0	152.0	164.0					6																	146678717		2203	4300	6503	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1489G>A	6.37:g.146678717G>A	ENSP00000282753:p.Val497Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.V497I	ENST00000282753.1	37	c.1489	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	6.526	0.465323	0.12402	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.18	4.16	0.48862	.	0.149392	0.56097	N	0.000021	T	0.57989	0.2091	N	0.04203	-0.255	0.47994	D	0.999561	B;B;B	0.24368	0.017;0.001;0.102	B;B;B	0.20577	0.03;0.001;0.03	T	0.57365	-0.7824	10	0.22109	T	0.4	.	7.8059	0.29202	0.3696:0.0:0.6304:0.0	.	497;497;497	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	I	497	ENSP00000354896:V497I;ENSP00000376119:V497I;ENSP00000424095:V497I;ENSP00000282753:V497I;ENSP00000347437:V497I;ENSP00000425599:V497I	ENSP00000282753:V497I	V	+	1	0	GRM1	146720410	0.951000	0.32395	0.643000	0.29450	0.737000	0.42083	1.802000	0.38853	1.244000	0.43870	0.655000	0.94253	GTT	GRM1	-	prints_GPCR_3_mtglu_rcpt_1		0.413	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	G	NM_000838		146678717	+1	no_errors	ENST00000282753	ensembl	human	known	70_37	missense	SNP	0.852	A
GRXCR1	389207	genome.wustl.edu	37	4	42965086	42965086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:42965086C>T	ENST00000399770.2	+	2	562	c.562C>T	c.(562-564)Cga>Tga	p.R188*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	188	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTTAGACGAACGATGCCGACG	0.418																																																	0													336.0	334.0	335.0					4																	42965086		1902	4120	6022	SO:0001587	stop_gained	389207				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.562C>T	4.37:g.42965086C>T	ENSP00000382670:p.Arg188*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.R188*	ENST00000399770.2	37	c.562	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	C	15.76	2.928974	0.52759	.	.	ENSG00000215203	ENST00000399770	.	.	.	6.07	1.85	0.25348	.	0.000000	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8656	16.2428	0.82424	0.4915:0.5085:0.0:0.0	.	.	.	.	X	188	.	ENSP00000382670:R188X	R	+	1	2	GRXCR1	42659843	0.970000	0.33590	0.897000	0.35233	0.084000	0.17831	0.696000	0.25541	0.392000	0.25172	0.655000	0.94253	CGA	GRXCR1	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold		0.418	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	C	NM_001080476		42965086	+1	no_errors	ENST00000399770	ensembl	human	known	70_37	nonsense	SNP	0.925	T
GSS	2937	genome.wustl.edu	37	20	33533875	33533875	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:33533875G>A	ENST00000216951.2	-	3	254	c.156C>T	c.(154-156)ctC>ctT	p.L52L	GSS_ENST00000541098.1_5'UTR|GSS_ENST00000451957.2_Silent_p.L52L	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	52					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GTGAGGGGAAGAGCGTGAATG	0.567																																																	0													130.0	112.0	118.0					20																	33533875		2203	4300	6503	SO:0001819	synonymous_variant	2937				CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.156C>T	20.37:g.33533875G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R697|B6F210|E1P5P9|Q4TTD9	Silent	SNP	pfam_Glutathione_synthase_euk,pfam_Glutathione_synth_subst-bd_euk,superfamily_PreATP-grasp_fold,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk	p.L52	ENST00000216951.2	37	c.156	CCDS13245.1	20																																																																																			GSS	-	pfam_Glutathione_synthase_euk,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk		0.567	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSS	HGNC	protein_coding	OTTHUMT00000078821.2	G			33533875	-1	no_errors	ENST00000216951	ensembl	human	known	70_37	silent	SNP	0.981	A
GYS2	2998	genome.wustl.edu	37	12	21695523	21695523	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:21695523C>G	ENST00000261195.2	-	13	1806	c.1552G>C	c.(1552-1554)Gaa>Caa	p.E518Q		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	518					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACAGTGCATTCAGCTGCCAGG	0.532																																					Colon(149;9 1820 3690 10544 50424)												0													74.0	60.0	65.0					12																	21695523		2203	4300	6503	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1552G>C	12.37:g.21695523C>G	ENSP00000261195:p.Glu518Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVD8	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1	p.E518Q	ENST00000261195.2	37	c.1552	CCDS8690.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.123397	0.94429	.	.	ENSG00000111713	ENST00000261195	D	0.89485	-2.52	5.34	5.34	0.76211	.	0.111063	0.64402	D	0.000009	D	0.95868	0.8655	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96312	0.9229	10	0.87932	D	0	-12.976	19.221	0.93796	0.0:1.0:0.0:0.0	.	518	P54840	GYS2_HUMAN	Q	518	ENSP00000261195:E518Q	ENSP00000261195:E518Q	E	-	1	0	GYS2	21586790	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.638000	0.83328	2.776000	0.95493	0.650000	0.86243	GAA	GYS2	-	pfam_Glycogen_synth,pfam_Glyco_trans_1		0.532	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS2	HGNC	protein_coding	OTTHUMT00000402396.1	C	NM_021957		21695523	-1	no_errors	ENST00000261195	ensembl	human	known	70_37	missense	SNP	1.000	G
HELZ2	85441	genome.wustl.edu	37	20	62195045	62195045	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:62195045G>A	ENST00000467148.1	-	8	5199	c.5130C>T	c.(5128-5130)ttC>ttT	p.F1710F	HELZ2_ENST00000427522.2_Silent_p.F1141F	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1710					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCTGGAGGCTGAAGGCCTGGC	0.677																																																	0													11.0	13.0	12.0					20																	62195045		2171	4286	6457	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5130C>T	20.37:g.62195045G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.F1710	ENST00000467148.1	37	c.5130	CCDS33508.1	20																																																																																			HELZ2	-	NULL		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62195045	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.471	A
HERC4	26091	genome.wustl.edu	37	10	69682816	69682816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:69682816C>A	ENST00000395198.3	-	26	3293	c.3046G>T	c.(3046-3048)Gag>Tag	p.E1016*	HERC4_ENST00000277817.6_Nonsense_Mutation_p.E906*|HERC4_ENST00000373700.4_Nonsense_Mutation_p.E1008*|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Nonsense_Mutation_p.E938*	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	1016	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGATACTCCTCACCACCTCCT	0.388																																																	0													151.0	159.0	156.0					10																	69682816		2203	4300	6503	SO:0001587	stop_gained	26091			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.3046G>T	10.37:g.69682816C>A	ENSP00000378624:p.Glu1016*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E1016*	ENST00000395198.3	37	c.3046	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	C	41	8.776932	0.98950	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	.	.	.	5.48	5.48	0.80851	.	0.046373	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7237	0.96153	0.0:1.0:0.0:0.0	.	.	.	.	X	906;938;1016;1008	.	ENSP00000277817:E906X	E	-	1	0	HERC4	69352822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.957000	0.70323	2.729000	0.93468	0.650000	0.86243	GAG	HERC4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.388	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	C	NM_015601		69682816	-1	no_errors	ENST00000395198	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HGD	3081	genome.wustl.edu	37	3	120389327	120389327	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:120389327C>T	ENST00000283871.5	-	4	688	c.229G>A	c.(229-231)Gac>Aac	p.D77N	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	77					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TGGCCTTCGTCAATGGATTCA	0.428																																																	0													154.0	153.0	153.0					3																	120389327		2203	4296	6499	SO:0001583	missense	3081				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.229G>A	3.37:g.120389327C>T	ENSP00000283871:p.Asp77Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K417|B2R8Z0	Missense_Mutation	SNP	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	p.D77N	ENST00000283871.5	37	c.229	CCDS3000.1	3	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808425	0.50421	.	.	ENSG00000113924	ENST00000283871;ENST00000476082	D;D	0.98914	-5.23;-5.23	6.06	6.06	0.98353	Cupin, RmlC-type (1);	0.386726	0.31507	N	0.007532	D	0.96200	0.8761	N	0.25144	0.715	0.30969	N	0.722764	B	0.02656	0.0	B	0.01281	0.0	D	0.91958	0.5576	10	0.33940	T	0.23	-0.8936	18.1221	0.89574	0.0:1.0:0.0:0.0	.	77	Q93099	HGD_HUMAN	N	77;36	ENSP00000283871:D77N;ENSP00000419560:D36N	ENSP00000283871:D77N	D	-	1	0	HGD	121872017	0.742000	0.28228	1.000000	0.80357	0.840000	0.47671	1.151000	0.31651	2.871000	0.98454	0.655000	0.94253	GAC	HGD	-	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase		0.428	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGD	HGNC	protein_coding	OTTHUMT00000355410.1	C			120389327	-1	no_errors	ENST00000283871	ensembl	human	known	70_37	missense	SNP	0.994	T
HIATL1	84641	genome.wustl.edu	37	9	97177517	97177517	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:97177517G>A	ENST00000375344.3	+	2	455	c.186G>A	c.(184-186)ttG>ttA	p.L62L	HIATL1_ENST00000428393.2_5'UTR	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	62					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				GGGGCCTGTTGACAACTCCAA	0.398																																					Pancreas(77;1260 1915 1973 10423)												0													206.0	183.0	191.0					9																	97177517		2203	4300	6503	SO:0001819	synonymous_variant	84641			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.186G>A	9.37:g.97177517G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.L62	ENST00000375344.3	37	c.186	CCDS6710.2	9																																																																																			HIATL1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.398	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIATL1	HGNC	protein_coding	OTTHUMT00000053184.1	G	NM_032558		97177517	+1	no_errors	ENST00000375344	ensembl	human	known	70_37	silent	SNP	0.998	A
HIST1H2BH	8345	genome.wustl.edu	37	6	26252218	26252218	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:26252218G>C	ENST00000356350.2	+	1	340	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	114					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E114K(2)|p.E114Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGCCGTGTCCGAGGGCACTAA	0.537																																																	3	Substitution - Missense(3)	large_intestine(1)|NS(1)|lung(1)											63.0	68.0	66.0					6																	26252218		2203	4300	6503	SO:0001583	missense	8345			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.340G>C	6.37:g.26252218G>C	ENSP00000348706:p.Glu114Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E114Q	ENST00000356350.2	37	c.340	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	15.46	2.839131	0.51057	.	.	ENSG00000197459	ENST00000356350	T	0.48836	0.8	4.65	3.78	0.43462	Histone-fold (2);	0.000000	0.40222	U	0.001155	T	0.44685	0.1305	M	0.91090	3.175	0.32333	N	0.560866	B	0.31769	0.339	B	0.34931	0.192	T	0.56848	-0.7911	10	0.72032	D	0.01	.	12.6473	0.56742	0.0824:0.0:0.9176:0.0	.	114	Q93079	H2B1H_HUMAN	Q	114	ENSP00000348706:E114Q	ENSP00000348706:E114Q	E	+	1	0	HIST1H2BH	26360197	1.000000	0.71417	0.962000	0.40283	0.380000	0.30137	7.726000	0.84824	1.271000	0.44313	0.591000	0.81541	GAG	HIST1H2BH	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.537	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1	G	NM_003524		26252218	+1	no_errors	ENST00000356350	ensembl	human	known	70_37	missense	SNP	1.000	C
HLA-C	3107	genome.wustl.edu	37	6	31238207	31238207	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:31238207C>T	ENST00000376228.5	-	4	689	c.675G>A	c.(673-675)ctG>ctA	p.L225L	HLA-C_ENST00000383329.3_Silent_p.L225L	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	225	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCCAGCACCTCAGGGTGGCCT	0.602																																																	0													46.0	50.0	49.0					6																	31238207		2202	4298	6500	SO:0001819	synonymous_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.675G>A	6.37:g.31238207C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O02864|O02958|Q29643|Q9MY30	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.L262	ENST00000376228.5	37	c.786	CCDS34393.1	6																																																																																			HLA-C	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.602	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	C	NM_002117		31238207	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	silent	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	186057774	186057774	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:186057774G>A	ENST00000271588.4	+	63	9843	c.9614G>A	c.(9613-9615)gGa>gAa	p.G3205E	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3205E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3205	Ig-like C2-type 30.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTTTGTCTGGAGGTAGCAAA	0.348																																																	0													49.0	53.0	52.0					1																	186057774		2202	4299	6501	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9614G>A	1.37:g.186057774G>A	ENSP00000271588:p.Gly3205Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.G3205E	ENST00000271588.4	37	c.9614	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568956	0.86439	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66995	-0.24;-0.24	5.37	5.37	0.77165	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	L	0.33293	1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65434	-0.6169	10	0.10377	T	0.69	.	19.1181	0.93350	0.0:0.0:1.0:0.0	.	3205	Q96RW7	HMCN1_HUMAN	E	3205	ENSP00000271588:G3205E;ENSP00000356462:G3205E	ENSP00000271588:G3205E	G	+	2	0	HMCN1	184324397	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.608000	0.82898	2.505000	0.84491	0.650000	0.86243	GGA	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.348	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935		186057774	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	A
HSPB1	3315	genome.wustl.edu	37	7	75933350	75933350	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:75933350G>A	ENST00000248553.6	+	3	647	c.478G>A	c.(478-480)Gag>Aag	p.E160K	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	160	Interaction with TGFB1I1. {ECO:0000250}.				cell death (GO:0008219)|cellular component movement (GO:0006928)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein kinase activity (GO:0006469)|platelet aggregation (GO:0070527)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of translational initiation (GO:0006446)|response to unfolded protein (GO:0006986)|response to virus (GO:0009615)|retina homeostasis (GO:0001895)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)|ubiquitin binding (GO:0043130)			large_intestine(1)|lung(3)	4						CCTGTCCCCTGAGGGCACACT	0.647																																																	0													30.0	26.0	27.0					7																	75933350		2203	4300	6503	SO:0001583	missense	3315			X54079	CCDS5583.1	7q11.23	2014-09-17	2002-08-29		ENSG00000106211	ENSG00000106211		"""Heat shock proteins / HSPB"""	5246	protein-coding gene	gene with protein product		602195	"""heat shock 27kD protein 1"""			2243808, 9344682	Standard	NM_001540		Approved	HSP27, HSP28, Hs.76067, Hsp25	uc003uew.3	P04792	OTTHUMG00000023228	ENST00000248553.6:c.478G>A	7.37:g.75933350G>A	ENSP00000248553:p.Glu160Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom	p.E160K	ENST00000248553.6	37	c.478	CCDS5583.1	7	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846795	0.91277	.	.	ENSG00000106211	ENST00000248553;ENST00000432276	D	0.92545	-3.06	4.65	4.65	0.58169	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.164682	0.53938	D	0.000059	D	0.90930	0.7149	L	0.45744	1.44	0.80722	D	1	B	0.27700	0.186	B	0.36186	0.219	D	0.90467	0.4450	10	0.87932	D	0	-23.086	16.6936	0.85328	0.0:0.0:1.0:0.0	.	160	P04792	HSPB1_HUMAN	K	160;125	ENSP00000248553:E160K	ENSP00000248553:E160K	E	+	1	0	HSPB1	75771286	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	8.821000	0.92009	2.420000	0.82092	0.555000	0.69702	GAG	HSPB1	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom		0.647	HSPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB1	HGNC	protein_coding	OTTHUMT00000252958.1	G			75933350	+1	no_errors	ENST00000248553	ensembl	human	known	70_37	missense	SNP	1.000	A
HSPB1	3315	genome.wustl.edu	37	7	75933361	75933361	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:75933361G>A	ENST00000248553.6	+	3	658	c.489G>A	c.(487-489)ctG>ctA	p.L163L	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	163	Interaction with TGFB1I1. {ECO:0000250}.				cell death (GO:0008219)|cellular component movement (GO:0006928)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein kinase activity (GO:0006469)|platelet aggregation (GO:0070527)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of translational initiation (GO:0006446)|response to unfolded protein (GO:0006986)|response to virus (GO:0009615)|retina homeostasis (GO:0001895)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)|ubiquitin binding (GO:0043130)			large_intestine(1)|lung(3)	4						AGGGCACACTGACCGTGGAGG	0.637																																																	0													28.0	25.0	26.0					7																	75933361		2203	4300	6503	SO:0001819	synonymous_variant	3315			X54079	CCDS5583.1	7q11.23	2014-09-17	2002-08-29		ENSG00000106211	ENSG00000106211		"""Heat shock proteins / HSPB"""	5246	protein-coding gene	gene with protein product		602195	"""heat shock 27kD protein 1"""			2243808, 9344682	Standard	NM_001540		Approved	HSP27, HSP28, Hs.76067, Hsp25	uc003uew.3	P04792	OTTHUMG00000023228	ENST00000248553.6:c.489G>A	7.37:g.75933361G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36	Silent	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom	p.L163	ENST00000248553.6	37	c.489	CCDS5583.1	7																																																																																			HSPB1	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP,pfscan_a-crystallin/Hsp20_dom		0.637	HSPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB1	HGNC	protein_coding	OTTHUMT00000252958.1	G			75933361	+1	no_errors	ENST00000248553	ensembl	human	known	70_37	silent	SNP	0.998	A
HTR1A	3350	genome.wustl.edu	37	5	63256510	63256510	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:63256510G>A	ENST00000323865.3	-	1	1270	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	346					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GATGCCCAGCGTCTTCACTGT	0.607																																																	0													122.0	124.0	124.0					5																	63256510		2203	4300	6503	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1037C>T	5.37:g.63256510G>A	ENSP00000316244:p.Thr346Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6LAE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.T346M	ENST00000323865.3	37	c.1037	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751066	0.69533	.	.	ENSG00000178394	ENST00000323865	T	0.36699	1.24	5.7	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.052820	0.85682	D	0.000000	T	0.61627	0.2362	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.65228	-0.6219	10	0.46703	T	0.11	.	14.9223	0.70847	0.0:0.0:0.8559:0.1441	.	346	P08908	5HT1A_HUMAN	M	346	ENSP00000316244:T346M	ENSP00000316244:T346M	T	-	2	0	HTR1A	63292266	1.000000	0.71417	0.926000	0.36857	0.997000	0.91878	9.869000	0.99810	1.370000	0.46153	0.655000	0.94253	ACG	HTR1A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	G	NM_000524		63256510	-1	no_errors	ENST00000323865	ensembl	human	known	70_37	missense	SNP	0.999	A
HTR4	3360	genome.wustl.edu	37	5	147889570	147889570	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:147889570G>A	ENST00000377888.3	-	6	663	c.525C>T	c.(523-525)ttC>ttT	p.F175F	HTR4_ENST00000314512.6_Silent_p.F175F|HTR4_ENST00000517929.1_Silent_p.F175F|HTR4_ENST00000521735.1_Silent_p.F175F|HTR4_ENST00000354217.2_Silent_p.F175F|HTR4_ENST00000520514.1_Silent_p.F175F|HTR4_ENST00000360693.3_Silent_p.F175F|HTR4_ENST00000362016.2_Silent_p.F189F|HTR4_ENST00000521530.1_Silent_p.F175F	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	175					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	AGTTCTGGTTGAACTTCCTCT	0.448																																					GBM(120;370 1604 14007 17804 41573)												0													71.0	70.0	70.0					5																	147889570		2203	4300	6503	SO:0001819	synonymous_variant	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.525C>T	5.37:g.147889570G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn	p.F175	ENST00000377888.3	37	c.525	CCDS4291.1	5																																																																																			HTR4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt		0.448	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR4	HGNC	protein_coding	OTTHUMT00000252187.2	G	NM_000870		147889570	-1	no_errors	ENST00000360693	ensembl	human	known	70_37	silent	SNP	1.000	A
HUNK	30811	genome.wustl.edu	37	21	33346885	33346885	+	Silent	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr21:33346885G>C	ENST00000270112.2	+	7	1389	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	343					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGGAAGATCTGAGCCCGAGCG	0.592																																																	0													120.0	113.0	115.0					21																	33346885		2203	4300	6503	SO:0001819	synonymous_variant	30811			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1029G>C	21.37:g.33346885G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L343	ENST00000270112.2	37	c.1029	CCDS13610.1	21																																																																																			HUNK	-	superfamily_Kinase-like_dom		0.592	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	HGNC	protein_coding	OTTHUMT00000192782.1	G	NM_014586		33346885	+1	no_errors	ENST00000270112	ensembl	human	known	70_37	silent	SNP	1.000	C
IGSF9	57549	genome.wustl.edu	37	1	159901343	159901343	+	Silent	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:159901343G>C	ENST00000368094.1	-	12	1610	c.1413C>G	c.(1411-1413)ctC>ctG	p.L471L	IGSF9_ENST00000493195.1_Intron|IGSF9_ENST00000361509.3_Silent_p.L455L	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	471	Ig-like 5.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.L455L(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCGCAGGATGAGGCTGCTGT	0.652																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											49.0	46.0	47.0					1																	159901343		2203	4300	6503	SO:0001819	synonymous_variant	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.1413C>G	1.37:g.159901343G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L471	ENST00000368094.1	37	c.1413	CCDS44254.1	1																																																																																			IGSF9	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.652	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	G	NM_020789		159901343	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	silent	SNP	0.997	C
IKBKAP	8518	genome.wustl.edu	37	9	111660988	111660988	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:111660988C>G	ENST00000374647.5	-	21	2553	c.2246G>C	c.(2245-2247)aGa>aCa	p.R749T	IKBKAP_ENST00000537196.1_Missense_Mutation_p.R400T	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	749					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGATTGATTCTCAGCTTTCT	0.348																																																	0													134.0	129.0	131.0					9																	111660988		2202	4300	6502	SO:0001583	missense	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2246G>C	9.37:g.111660988C>G	ENSP00000363779:p.Arg749Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.R749T	ENST00000374647.5	37	c.2246	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705529	0.89018	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.51574	0.7;0.7	5.35	5.35	0.76521	.	0.128846	0.64402	D	0.000002	T	0.77811	0.4186	H	0.94264	3.515	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.84091	0.0390	10	0.87932	D	0	-4.5774	16.9167	0.86153	0.0:1.0:0.0:0.0	.	749	O95163	ELP1_HUMAN	T	749;400	ENSP00000363779:R749T;ENSP00000439367:R400T	ENSP00000363779:R749T	R	-	2	0	IKBKAP	110700809	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.603000	0.82811	2.665000	0.90641	0.650000	0.86243	AGA	IKBKAP	-	pfam_IKI3,pirsf_IKI3		0.348	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	C			111660988	-1	no_errors	ENST00000374647	ensembl	human	known	70_37	missense	SNP	1.000	G
IMMT	10989	genome.wustl.edu	37	2	86371573	86371573	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:86371573C>G	ENST00000410111.3	-	15	2482	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	IMMT_ENST00000442664.2_Missense_Mutation_p.E698Q|IMMT_ENST00000409051.2_Missense_Mutation_p.E652Q|IMMT_ENST00000449247.2_Missense_Mutation_p.E688Q|IMMT_ENST00000254636.5_Missense_Mutation_p.E600Q	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	699					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCACCATGCTCAATGCAATAG	0.507																																																	0													98.0	92.0	94.0					2																	86371573		1952	4155	6107	SO:0001583	missense	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.2095G>C	2.37:g.86371573C>G	ENSP00000387262:p.Glu699Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	pfam_Mt-IM_prot_Mitofilin	p.E699Q	ENST00000410111.3	37	c.2095	CCDS46355.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.130479|4.130479	0.77549|0.77549	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73071|.	0.3540|.	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;P;P;P|.	0.51240|.	0.642;0.943;0.929;0.929;0.898|.	P;P;P;P;P|.	0.60415|.	0.504;0.874;0.8;0.8;0.874|.	T|.	0.69292|.	-0.5183|.	10|.	0.37606|.	T|.	0.19|.	-21.3235|-21.3235	19.4005|19.4005	0.94627|0.94627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	652;687;688;667;699|.	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;IMMT_HUMAN|.	Q|S	600;688;699;698;652;688;667;313;600|553	ENSP00000254636:E600Q;ENSP00000396899:E688Q;ENSP00000387262:E699Q;ENSP00000407788:E698Q;ENSP00000387227:E652Q|.	ENSP00000254636:E600Q|.	E|X	-|-	1|2	0|2	IMMT|IMMT	86225084|86225084	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.521000|0.521000	0.34408|0.34408	7.651000|7.651000	0.83577|0.83577	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GAG|TGA	IMMT	-	pfam_Mt-IM_prot_Mitofilin		0.507	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IMMT	HGNC	protein_coding	OTTHUMT00000329909.2	C	NM_006839		86371573	-1	no_errors	ENST00000410111	ensembl	human	known	70_37	missense	SNP	1.000	G
KCND3	3752	genome.wustl.edu	37	1	112525177	112525177	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:112525177G>A	ENST00000315987.2	-	2	651	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	KCND3_ENST00000369697.1_Silent_p.L58L|KCND3_ENST00000302127.4_Silent_p.L58L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	58					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TAGCGCTCCAGCGTGGTCCTC	0.627																																																	0													82.0	77.0	79.0					1																	112525177		2203	4300	6503	SO:0001819	synonymous_variant	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.172C>T	1.37:g.112525177G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.L58	ENST00000315987.2	37	c.172	CCDS843.1	1																																																																																			KCND3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	G	NM_172198		112525177	-1	no_errors	ENST00000315987	ensembl	human	known	70_37	silent	SNP	0.994	A
INSRR	3645	genome.wustl.edu	37	1	156824069	156824069	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:156824069C>G	ENST00000368195.3	-	2	508	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	38					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCTGCCACCTCTGAGCGAATA	0.617																																																	0													32.0	33.0	33.0					1																	156824069		2203	4300	6503	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.112G>C	1.37:g.156824069C>G	ENSP00000357178:p.Glu38Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60724|Q5VZS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E38Q	ENST00000368195.3	37	c.112	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	C	9.428	1.084875	0.20309	.	.	ENSG00000027644	ENST00000368195	T	0.30182	1.54	5.06	5.06	0.68205	.	0.145247	0.31709	N	0.007197	T	0.14874	0.0359	.	.	.	0.32875	D	0.509703	B	0.18166	0.026	B	0.20184	0.028	T	0.06445	-1.0826	9	0.46703	T	0.11	.	15.916	0.79517	0.0:1.0:0.0:0.0	.	38	P14616	INSRR_HUMAN	Q	38	ENSP00000357178:E38Q	ENSP00000357178:E38Q	E	-	1	0	INSRR	155090693	0.919000	0.31177	0.941000	0.38009	0.201000	0.24016	1.788000	0.38714	2.367000	0.80283	0.557000	0.71058	GAG	INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt		0.617	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	C	NM_014215		156824069	-1	no_errors	ENST00000368195	ensembl	human	known	70_37	missense	SNP	0.963	G
KCNJ16	3773	genome.wustl.edu	37	17	68128780	68128780	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:68128780C>T	ENST00000589377.1	+	2	715	c.552C>T	c.(550-552)ttC>ttT	p.F184F	KCNJ16_ENST00000392670.1_Silent_p.F184F|KCNJ16_ENST00000586462.1_Silent_p.F223F|KCNJ16_ENST00000392671.1_Silent_p.F184F|KCNJ16_ENST00000283936.1_Silent_p.F184F|KCNJ16_ENST00000585558.1_Silent_p.F219F	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	184					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCATTCGTTTCAGCTACTTTG	0.458																																																	0													89.0	81.0	84.0					17																	68128780		2203	4300	6503	SO:0001819	synonymous_variant	3773			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.552C>T	17.37:g.68128780C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir	p.F184	ENST00000589377.1	37	c.552	CCDS11687.1	17																																																																																			KCNJ16	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.458	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	HGNC	protein_coding	OTTHUMT00000450880.1	C	NM_018658		68128780	+1	no_errors	ENST00000283936	ensembl	human	known	70_37	silent	SNP	0.986	T
KCNS3	3790	genome.wustl.edu	37	2	18113402	18113402	+	Missense_Mutation	SNP	C	C	A	rs541299086		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:18113402C>A	ENST00000403915.1	+	3	1578	c.1127C>A	c.(1126-1128)aCc>aAc	p.T376N	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.T376N	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	376	Segment H5 (pore-forming). {ECO:0000255}.				energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATGGAGACACCCACCCGGTC	0.557																																																	0													104.0	92.0	96.0					2																	18113402		2203	4300	6503	SO:0001583	missense	3790			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.1127C>A	2.37:g.18113402C>A	ENSP00000385968:p.Thr376Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.T376N	ENST00000403915.1	37	c.1127	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459985	0.63401	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97455	-4.39;-4.39	5.86	5.86	0.93980	Ion transport (1);	0.045379	0.85682	D	0.000000	D	0.98254	0.9422	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	D	0.98858	1.0761	10	0.87932	D	0	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	376	Q9BQ31	KCNS3_HUMAN	N	376	ENSP00000385968:T376N;ENSP00000305824:T376N	ENSP00000305824:T376N	T	+	2	0	KCNS3	17976883	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.029000	0.70895	2.775000	0.95449	0.655000	0.94253	ACC	KCNS3	-	pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl		0.557	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	C	NM_002252		18113402	+1	no_errors	ENST00000304101	ensembl	human	known	70_37	missense	SNP	1.000	A
KCTD10	83892	genome.wustl.edu	37	12	109898564	109898564	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:109898564G>A	ENST00000228495.6	-	3	545	c.264C>T	c.(262-264)ctC>ctT	p.L88L	KCTD10_ENST00000540089.1_5'Flank|KCTD10_ENST00000424763.2_Intron|KCTD10_ENST00000540411.1_Silent_p.L85L|KCTD10_ENST00000538161.1_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GAAGGTAGTTGAGTATCGTAC	0.607																																																	0													88.0	78.0	81.0					12																	109898564		2203	4300	6503	SO:0001819	synonymous_variant	83892			BC040062	CCDS9128.1	12q24.12	2013-06-20	2013-06-20		ENSG00000110906	ENSG00000110906		"""BTB/POZ domain containing"""	23236	protein-coding gene	gene with protein product		613421	"""potassium channel tetramerisation domain containing 10"""			12477932	Standard	XM_005253946		Approved	MSTP028, BTBD28	uc001toi.1	Q9H3F6	OTTHUMG00000169253	ENST00000228495.6:c.264C>T	12.37:g.109898564G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53HN2|Q59FV1|Q6PL47|Q96SU0	Silent	SNP	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L88	ENST00000228495.6	37	c.264	CCDS9128.1	12	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319894	0.23994	.	.	ENSG00000110906	ENST00000538161	.	.	.	5.31	2.55	0.30701	.	.	.	.	.	T	0.43612	0.1255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28106	-1.0054	4	.	.	.	-20.2867	1.6113	0.02694	0.2415:0.1507:0.4697:0.138	.	.	.	.	L	54	.	.	S	-	2	0	KCTD10	108382947	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	0.368000	0.20399	0.409000	0.25649	-0.145000	0.13849	TCA	KCTD10	-	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.607	KCTD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD10	HGNC	protein_coding	OTTHUMT00000403099.1	G	NM_031954		109898564	-1	no_errors	ENST00000228495	ensembl	human	known	70_37	silent	SNP	0.998	A
KIAA0754	643314	genome.wustl.edu	37	1	39877398	39877398	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:39877398G>T	ENST00000530275.1	+	1	1248	c.1053G>T	c.(1051-1053)caG>caT	p.Q351H	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	351										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGAGCTACAGAATCAAATCT	0.423																																																	0													77.0	74.0	75.0					1																	39877398		1857	4100	5957	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1053G>T	1.37:g.39877398G>T	ENSP00000431179:p.Gln351His	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	NULL	p.Q351H	ENST00000530275.1	37	c.1053		1	.	.	.	.	.	.	.	.	.	.	G	9.696	1.153229	0.21371	.	.	ENSG00000255103	ENST00000530275	D	0.85955	-2.05	5.14	3.23	0.37069	.	.	.	.	.	T	0.75079	0.3801	N	0.08118	0	0.09310	N	1	P	0.48503	0.911	P	0.47941	0.562	T	0.65957	-0.6042	9	0.66056	D	0.02	.	8.4699	0.32980	0.1216:0.0:0.747:0.1314	.	351	O94854	K0754_HUMAN	H	351	ENSP00000431179:Q351H	ENSP00000431179:Q351H	Q	+	3	2	RP4-562N20.1	39649985	1.000000	0.71417	0.807000	0.32361	0.299000	0.27559	1.672000	0.37523	2.398000	0.81561	0.655000	0.94253	CAG	KIAA0754	-	NULL		0.423	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	G	NM_015038		39877398	+1	no_errors	ENST00000530275	ensembl	human	known	70_37	missense	SNP	0.151	T
KDM5B	10765	genome.wustl.edu	37	1	202702961	202702961	+	Silent	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:202702961G>C	ENST00000367265.3	-	23	4641	c.3477C>G	c.(3475-3477)ctC>ctG	p.L1159L	KDM5B_ENST00000367264.2_Silent_p.L1195L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1159					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGGCGAGTCTGAGAGACTGCA	0.488																																																	0													109.0	118.0	115.0					1																	202702961		2203	4300	6503	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3477C>G	1.37:g.202702961G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O95811|Q15752|Q9Y3Q5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.L1159	ENST00000367265.3	37	c.3477	CCDS30974.1	1																																																																																			KDM5B	-	superfamily_Znf_FYVE_PHD		0.488	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	G	NM_006618		202702961	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	silent	SNP	0.999	C
KIAA1462	57608	genome.wustl.edu	37	10	30315869	30315869	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:30315869C>T	ENST00000375377.1	-	3	3309	c.3208G>A	c.(3208-3210)Gaa>Aaa	p.E1070K		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1070					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTGCTTGCTTCACCCAAAGAC	0.597																																																	0													164.0	160.0	162.0					10																	30315869		1915	4126	6041	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3208G>A	10.37:g.30315869C>T	ENSP00000364526:p.Glu1070Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.E1070K	ENST00000375377.1	37	c.3208	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	5.871	0.344888	0.11126	.	.	ENSG00000165757	ENST00000375377	T	0.12569	2.67	4.98	-3.49	0.04724	.	1.607170	0.02933	N	0.139482	T	0.10465	0.0256	L	0.51422	1.61	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.25502	-1.0130	10	0.12103	T	0.63	-0.0121	2.1519	0.03802	0.1066:0.2068:0.3197:0.367	.	1070	Q9P266	K1462_HUMAN	K	1070	ENSP00000364526:E1070K	ENSP00000364526:E1070K	E	-	1	0	KIAA1462	30355875	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.614000	0.05604	-0.776000	0.04578	0.462000	0.41574	GAA	KIAA1462	-	NULL		0.597	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30315869	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.000	T
KIAA1462	57608	genome.wustl.edu	37	10	30315873	30315873	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:30315873C>G	ENST00000375377.1	-	3	3305	c.3204G>C	c.(3202-3204)ttG>ttC	p.L1068F		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1068					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTGCTTCACCCAAAGACCCCT	0.602																																																	0													164.0	161.0	162.0					10																	30315873		1915	4127	6042	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3204G>C	10.37:g.30315873C>G	ENSP00000364526:p.Leu1068Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.L1068F	ENST00000375377.1	37	c.3204	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	4.901	0.167517	0.09339	.	.	ENSG00000165757	ENST00000375377	T	0.14144	2.53	4.98	-1.52	0.08637	.	1.191220	0.06243	N	0.690798	T	0.12518	0.0304	L	0.56769	1.78	0.09310	N	1	B	0.21452	0.056	B	0.23150	0.044	T	0.41324	-0.9515	10	0.45353	T	0.12	-0.6884	1.0898	0.01661	0.3304:0.3112:0.095:0.2634	.	1068	Q9P266	K1462_HUMAN	F	1068	ENSP00000364526:L1068F	ENSP00000364526:L1068F	L	-	3	2	KIAA1462	30355879	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-1.391000	0.02525	-0.209000	0.10156	0.462000	0.41574	TTG	KIAA1462	-	NULL		0.602	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	C	NM_020848		30315873	-1	no_errors	ENST00000375377	ensembl	human	known	70_37	missense	SNP	0.000	G
KIDINS220	57498	genome.wustl.edu	37	2	8967125	8967125	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:8967125C>T	ENST00000256707.3	-	2	280	c.99G>A	c.(97-99)gaG>gaA	p.E33E	KIDINS220_ENST00000319688.5_Silent_p.E33E|KIDINS220_ENST00000427284.1_Silent_p.E33E|KIDINS220_ENST00000473731.1_Silent_p.E33E|KIDINS220_ENST00000418530.1_5'UTR	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	33					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTCATTTCTCTCATCTACAT	0.338																																																	0													141.0	134.0	136.0					2																	8967125		1842	4087	5929	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.99G>A	2.37:g.8967125C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E33	ENST00000256707.3	37	c.99	CCDS42650.1	2																																																																																			KIDINS220	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.338	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8967125	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	1.000	T
KLC3	147700	genome.wustl.edu	37	19	45851407	45851407	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:45851407G>A	ENST00000391946.2	+	5	870	c.768G>A	c.(766-768)gcG>gcA	p.A256A	KLC3_ENST00000470402.1_Silent_p.A270A|KLC3_ENST00000585434.1_Silent_p.A255A	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	256					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACATCCTGGCGCTGGTGTACC	0.672																																																	0													15.0	12.0	13.0					19																	45851407		2202	4295	6497	SO:0001819	synonymous_variant	147700			AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.768G>A	19.37:g.45851407G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Silent	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.A270	ENST00000391946.2	37	c.810	CCDS12660.2	19																																																																																			KLC3	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.672	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLC3	HGNC	protein_coding	OTTHUMT00000289776.1	G	NM_145275		45851407	+1	no_errors	ENST00000470402	ensembl	human	known	70_37	silent	SNP	0.960	A
KRAS	3845	genome.wustl.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000311936.3_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D|KRAS_ENST00000556131.1_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)											88.0	78.0	82.0					12																	25398281		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G13D	ENST00000256078.4	37	c.38	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398281	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T
KRT83	3889	genome.wustl.edu	37	12	52713041	52713041	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:52713041G>C	ENST00000293670.3	-	2	554	c.492C>G	c.(490-492)atC>atG	p.I164M		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	164	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGAGTCTCGATGTAGCCAG	0.602																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)												0													93.0	104.0	100.0					12																	52713041		2203	4300	6503	SO:0001583	missense	3889			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.492C>G	12.37:g.52713041G>C	ENSP00000293670:p.Ile164Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.I164M	ENST00000293670.3	37	c.492	CCDS8823.1	12	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589071	0.66105	.	.	ENSG00000170523	ENST00000293670	D	0.91237	-2.81	4.81	-0.426	0.12314	Filament (1);	0.000000	0.39834	U	0.001244	D	0.92185	0.7522	M	0.77616	2.38	0.32631	N	0.522038	P	0.50528	0.936	P	0.59115	0.852	D	0.90473	0.4454	10	0.87932	D	0	.	6.3496	0.21369	0.3397:0.0:0.5451:0.1151	.	164	P78385	KRT83_HUMAN	M	164	ENSP00000293670:I164M	ENSP00000293670:I164M	I	-	3	3	KRT83	50999308	0.029000	0.19370	0.997000	0.53966	0.964000	0.63967	0.137000	0.15995	-0.050000	0.13356	-0.244000	0.11960	ATC	KRT83	-	pfam_F		0.602	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT83	HGNC	protein_coding	OTTHUMT00000405182.1	G	NM_002282		52713041	-1	no_errors	ENST00000293670	ensembl	human	known	70_37	missense	SNP	1.000	C
LANCL1	10314	genome.wustl.edu	37	2	211302514	211302514	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:211302514G>A	ENST00000443314.1	-	6	1115	c.773C>T	c.(772-774)tCt>tTt	p.S258F	LANCL1_ENST00000233714.4_Missense_Mutation_p.S258F|LANCL1_ENST00000450366.2_Missense_Mutation_p.S258F|LANCL1_ENST00000431941.2_Missense_Mutation_p.S258F|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000441020.3_Missense_Mutation_p.S258F|AC007970.1_ENST00000420418.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	258					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GTAATTGCCAGAAGGGAATTT	0.483																																																	0													94.0	88.0	90.0					2																	211302514		2203	4300	6503	SO:0001583	missense	10314			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.773C>T	2.37:g.211302514G>A	ENSP00000388713:p.Ser258Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.S258F	ENST00000443314.1	37	c.773	CCDS2392.1	2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485499	0.84854	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.62	4.73	0.59995	Six-hairpin glycosidase-like (1);	0.109676	0.64402	D	0.000005	T	0.75953	0.3920	H	0.94734	3.575	0.52501	D	0.999953	D	0.89917	1.0	D	0.70716	0.97	T	0.82997	-0.0179	10	0.87932	D	0	.	14.9156	0.70795	0.0699:0.0:0.9301:0.0	.	258	O43813	LANC1_HUMAN	F	258	ENSP00000388713:S258F;ENSP00000393323:S258F;ENSP00000393597:S258F;ENSP00000233714:S258F;ENSP00000397646:S258F	ENSP00000233714:S258F	S	-	2	0	LANCL1	211010759	1.000000	0.71417	0.969000	0.41365	0.876000	0.50452	7.642000	0.83385	2.640000	0.89533	0.591000	0.81541	TCT	LANCL1	-	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk		0.483	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LANCL1	HGNC	protein_coding	OTTHUMT00000336817.1	G	NM_006055		211302514	-1	no_errors	ENST00000233714	ensembl	human	known	70_37	missense	SNP	0.997	A
LAS1L	81887	genome.wustl.edu	37	X	64752491	64752491	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:64752491C>T	ENST00000374811.3	-	3	422	c.382G>A	c.(382-384)Gag>Aag	p.E128K	LAS1L_ENST00000312391.8_Missense_Mutation_p.E128K|LAS1L_ENST00000374807.5_Missense_Mutation_p.E128K|LAS1L_ENST00000374804.5_Missense_Mutation_p.E86K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	128					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GTCTTCCTCTCTGAGATAAGA	0.468																																																	0													112.0	85.0	94.0					X																	64752491		2203	4300	6503	SO:0001583	missense	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.382G>A	X.37:g.64752491C>T	ENSP00000363944:p.Glu128Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.E128K	ENST00000374811.3	37	c.382	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528041	0.85706	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.8	5.8	0.92144	.	0.049476	0.85682	D	0.000000	T	0.80944	0.4721	M	0.82823	2.61	0.58432	D	0.999993	D;D;P	0.89917	0.999;1.0;0.949	D;D;D	0.87578	0.996;0.998;0.913	T	0.83007	-0.0174	9	0.59425	D	0.04	.	16.1808	0.81898	0.0:1.0:0.0:0.0	.	86;128;128	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	K	128;128;86;128	.	ENSP00000308649:E128K	E	-	1	0	LAS1L	64669216	0.996000	0.38824	0.946000	0.38457	0.940000	0.58332	4.362000	0.59467	2.424000	0.82194	0.600000	0.82982	GAG	LAS1L	-	pfam_Las1		0.468	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	C	NM_031206		64752491	-1	no_errors	ENST00000374811	ensembl	human	known	70_37	missense	SNP	0.986	T
LGR5	8549	genome.wustl.edu	37	12	71972663	71972663	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:71972663C>G	ENST00000266674.5	+	15	1671	c.1360C>G	c.(1360-1362)Cat>Gat	p.H454D	LGR5_ENST00000540815.2_Missense_Mutation_p.H430D|LGR5_ENST00000536515.1_Missense_Mutation_p.H382D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	454					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AACAGGAAATCATGCCTTACA	0.353																																																	0													137.0	131.0	133.0					12																	71972663		2203	4300	6503	SO:0001583	missense	8549			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1360C>G	12.37:g.71972663C>G	ENSP00000266674:p.His454Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.H454D	ENST00000266674.5	37	c.1360	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922981	0.33908	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.57595	0.45;0.39;0.53	5.84	4.93	0.64822	.	0.309664	0.28453	N	0.015295	T	0.43919	0.1269	L	0.42245	1.32	0.29075	N	0.883076	B;B	0.17465	0.008;0.022	B;B	0.22386	0.039;0.028	T	0.39961	-0.9588	10	0.36615	T	0.2	.	9.6163	0.39694	0.1426:0.7873:0.0:0.0701	.	430;454	O75473-2;O75473	.;LGR5_HUMAN	D	454;454;382;430	ENSP00000266674:H454D;ENSP00000443033:H382D;ENSP00000441035:H430D	ENSP00000266674:H454D	H	+	1	0	LGR5	70258930	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.005000	0.40864	1.435000	0.47434	0.650000	0.86243	CAT	LGR5	-	NULL		0.353	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	C	NM_003667		71972663	+1	no_errors	ENST00000266674	ensembl	human	known	70_37	missense	SNP	0.999	G
LINC00618	145249	genome.wustl.edu	37	14	97411571	97411571	+	lincRNA	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:97411571C>T	ENST00000435624.1	+	0	288				AL133168.3_ENST00000557090.1_RNA					long intergenic non-protein coding RNA 618																		TATCCACCCTCCAGCCACACC	0.572																																																	0																																												145249			AA055628		14q32.2	2012-10-12	2012-07-05	2012-07-05	ENSG00000225163	ENSG00000225163		"""Long non-coding RNAs"""	20110	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 63"""	C14orf63			Standard	NR_104113		Approved				OTTHUMG00000171460		14.37:g.97411571C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000435624.1	37	NULL		14																																																																																			LINC00618	-	-		0.572	LINC00618-001	KNOWN	basic	lincRNA	LINC00618	HGNC	lincRNA	OTTHUMT00000072303.1	C			97411571	+1	no_errors	ENST00000435624	ensembl	human	known	70_37	rna	SNP	0.000	T
LMBRD1	55788	genome.wustl.edu	37	6	70407490	70407490	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:70407490G>A	ENST00000370577.3	-	14	1611	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	LMBRD1_ENST00000370570.1_Missense_Mutation_p.S388F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	461					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)	p.S461F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CTTTGGCACAGAAAGGGTTGA	0.313																																																	1	Substitution - Missense(1)	ovary(1)											106.0	106.0	106.0					6																	70407490		2203	4300	6503	SO:0001583	missense	55788			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1382C>T	6.37:g.70407490G>A	ENSP00000359609:p.Ser461Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.S461F	ENST00000370577.3	37	c.1382	CCDS4969.1	6	.	.	.	.	.	.	.	.	.	.	G	9.318	1.057315	0.19907	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.18338	2.22;2.22	5.71	3.93	0.45458	.	0.590771	0.20063	N	0.100027	T	0.02418	0.0074	N	0.16478	0.41	0.21386	N	0.999709	B	0.02656	0.0	B	0.01281	0.0	T	0.44112	-0.9349	10	0.09338	T	0.73	-1.6191	7.3492	0.26680	0.1546:0.141:0.7044:0.0	.	461	Q9NUN5	LMBD1_HUMAN	F	461;388	ENSP00000359609:S461F;ENSP00000359602:S388F	ENSP00000359602:S388F	S	-	2	0	LMBRD1	70464211	0.058000	0.20735	0.928000	0.36995	0.920000	0.55202	0.553000	0.23391	1.432000	0.47375	-0.143000	0.13931	TCT	LMBRD1	-	NULL		0.313	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	G	NM_018368		70407490	-1	no_errors	ENST00000370577	ensembl	human	known	70_37	missense	SNP	0.320	A
LMF2	91289	genome.wustl.edu	37	22	50944111	50944111	+	Missense_Mutation	SNP	G	G	A	rs149785243		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:50944111G>A	ENST00000474879.2	-	6	923	c.908C>T	c.(907-909)aCg>aTg	p.T303M	NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.T303M|LMF2_ENST00000216080.5_Missense_Mutation_p.T278M|LMF2_ENST00000505981.1_5'Flank|NCAPH2_ENST00000395698.3_5'Flank|NCAPH2_ENST00000420993.2_5'Flank|NCAPH2_ENST00000395701.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	303						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGGTGGCCGTCTTCTTGCG	0.642																																																	0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	39.0	43.0	42.0		908	-6.8	0.0	22	dbSNP_134	42	0,8600		0,0,4300	no	missense	LMF2	NM_033200.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	303/708	50944111	1,13005	2203	4300	6503	SO:0001583	missense	91289			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.908C>T	22.37:g.50944111G>A	ENSP00000424381:p.Thr303Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	pfam_LMF	p.T303M	ENST00000474879.2	37	c.908	CCDS14093.2	22	.	.	.	.	.	.	.	.	.	.	G	3.098	-0.185364	0.06340	2.27E-4	0.0	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.24151	1.87;1.87;1.87	4.79	-6.81	0.01704	.	1.253180	0.05123	N	0.491092	T	0.11024	0.0269	N	0.16790	0.44	0.09310	N	1	B;P	0.35793	0.036;0.521	B;B	0.20767	0.021;0.031	T	0.23440	-1.0188	10	0.46703	T	0.11	0.0147	7.7721	0.29015	0.6114:0.0:0.2756:0.113	.	303;278	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	M	303;303;278	ENSP00000370173:T303M;ENSP00000424381:T303M;ENSP00000216080:T278M	ENSP00000216080:T278M	T	-	2	0	LMF2	49290977	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.787000	0.01764	-1.263000	0.02455	-0.302000	0.09304	ACG	LMF2	-	pfam_LMF		0.642	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	HGNC	protein_coding	OTTHUMT00000316833.2	G	NM_033200		50944111	-1	no_errors	ENST00000474879	ensembl	human	known	70_37	missense	SNP	0.000	A
LMLN	89782	genome.wustl.edu	37	3	197712736	197712736	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:197712736G>C	ENST00000330198.4	+	8	926	c.904G>C	c.(904-906)Gat>Cat	p.D302H	LMLN_ENST00000482695.1_Missense_Mutation_p.D250H|LMLN_ENST00000420910.2_Missense_Mutation_p.D302H|LMLN_ENST00000332636.5_Missense_Mutation_p.D250H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	302					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AAGATTTGCAGATGGCCTCCC	0.383																																																	0													108.0	104.0	105.0					3																	197712736		2203	4300	6503	SO:0001583	missense	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.904G>C	3.37:g.197712736G>C	ENSP00000328829:p.Asp302His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.D302H	ENST00000330198.4	37	c.904	CCDS3332.1	3	.	.	.	.	.	.	.	.	.	.	G	6.973	0.549490	0.13374	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.24	3.26	0.37387	.	0.271361	0.42172	D	0.000749	T	0.40570	0.1122	L	0.41573	1.285	0.35248	D	0.778451	B;P;P;P;B	0.48640	0.257;0.913;0.895;0.865;0.049	B;P;P;P;B	0.53593	0.14;0.73;0.672;0.657;0.06	T	0.45571	-0.9252	10	0.31617	T	0.26	-16.3268	6.2432	0.20803	0.1408:0.0:0.8592:0.0	.	302;250;302;294;250	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	H	250;302;302;250	ENSP00000418324:D250H;ENSP00000328829:D302H;ENSP00000410926:D302H;ENSP00000328611:D250H	ENSP00000328829:D302H	D	+	1	0	LMLN	199197133	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	2.831000	0.48144	2.201000	0.70794	0.298000	0.19748	GAT	LMLN	-	pfam_Peptidase_M8		0.383	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	G	NM_033029		197712736	+1	no_errors	ENST00000330198	ensembl	human	known	70_37	missense	SNP	1.000	C
LMNB1	4001	genome.wustl.edu	37	5	126113469	126113469	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:126113469G>A	ENST00000261366.5	+	1	630	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	RP11-434D11.4_ENST00000509185.2_lincRNA|LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Missense_Mutation_p.R90Q	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	90	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		GCCGACGCGCGACGCGCGCTC	0.692																																																	0													4.0	4.0	4.0					5																	126113469		1925	3776	5701	SO:0001583	missense	4001			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.269G>A	5.37:g.126113469G>A	ENSP00000261366:p.Arg90Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	pfam_F,pfam_Lamin_tail_dom	p.R90Q	ENST00000261366.5	37	c.269	CCDS4140.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.586798	0.96578	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.92595	-3.07;-3.07	1.85	1.85	0.25348	Filament (1);	0.000000	0.64402	U	0.000004	D	0.94152	0.8124	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94018	0.7290	10	0.66056	D	0.02	.	12.6968	0.57008	0.0:0.0:1.0:0.0	.	90	P20700	LMNB1_HUMAN	Q	90	ENSP00000261366:R90Q;ENSP00000378761:R90Q	ENSP00000261366:R90Q	R	+	2	0	LMNB1	126141368	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.997000	0.93544	1.342000	0.45619	0.313000	0.20887	CGA	LMNB1	-	pfam_F		0.692	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNB1	HGNC	protein_coding	OTTHUMT00000250956.2	G	NM_005573		126113469	+1	no_errors	ENST00000261366	ensembl	human	known	70_37	missense	SNP	1.000	A
RP11-420N3.2	0	genome.wustl.edu	37	16	5289856	5289856	+	RNA	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:5289856C>G	ENST00000569895.1	+	0	54																											GGTCCTTCCTCTTCCCCAAGT	0.766																																																	0																																												100287538																															16.37:g.5289856C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000569895.1	37	NULL		16																																																																																			RP11-420N3.2	-	-		0.766	RP11-420N3.2-001	KNOWN	basic	processed_transcript	LOC100287538	Clone_based_vega_gene	processed_transcript	OTTHUMT00000435404.2	C			5289856	+1	no_errors	ENST00000569895	ensembl	human	known	70_37	rna	SNP	0.005	G
PSMD5	5711	genome.wustl.edu	37	9	123605287	123605287	+	5'Flank	SNP	C	C	T	rs531528733	byFrequency	TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:123605287C>T	ENST00000210313.3	-	0	0				PSMD5_ENST00000373904.5_5'Flank|PSMD5-AS1_ENST00000447891.1_RNA|PSMD5-AS1_ENST00000586907.1_RNA|PSMD5-AS1_ENST00000588973.1_RNA|PSMD5-AS1_ENST00000609388.1_RNA|PSMD5-AS1_ENST00000608862.1_RNA|PSMD5-AS1_ENST00000589026.1_RNA|PSMD5-AS1_ENST00000432640.1_RNA|PSMD5-AS1_ENST00000442982.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						CCTGAGATGGCTATGGGGCTG	0.647													C|||	2	0.000399361	0.0	0.0	5008	,	,		15384	0.0		0.0	False		,,,				2504	0.002																0																																										SO:0001631	upstream_gene_variant	253039			AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573		9.37:g.123605287C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZM8|Q15045|Q4VXG8	RNA	SNP	-	NULL	ENST00000210313.3	37	NULL	CCDS6824.1	9																																																																																			RP11-27I1.2	-	-		0.647	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC253039	Clone_based_vega_gene	protein_coding	OTTHUMT00000053825.2	C	NM_005047		123605287	+1	no_errors	ENST00000586907	ensembl	human	known	70_37	rna	SNP	0.000	T
LOXHD1	125336	genome.wustl.edu	37	18	44140130	44140130	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:44140130C>T	ENST00000398722.4	-	12	2142	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	LOXHD1_ENST00000441893.2_5'Flank|LOXHD1_ENST00000582408.1_5'Flank|LOXHD1_ENST00000536736.1_Missense_Mutation_p.E993K|LOXHD1_ENST00000300591.6_5'Flank|LOXHD1_ENST00000441551.2_Intron			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	715	Glu-rich.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						CGGTGGGCTTCGAACTTGTGC	0.612																																																	0													65.0	64.0	64.0					18																	44140130		692	1591	2283	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.2143G>A	18.37:g.44140130C>T	ENSP00000381707:p.Glu715Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	p.E993K	ENST00000398722.4	37	c.2977		18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.585536|1.585536	0.28268|0.28268	.|.	.|.	ENSG00000167210|ENSG00000167210	ENST00000398722;ENST00000536736;ENST00000335730|ENST00000441551	T;T|.	0.05513|.	3.44;3.43|.	5.24|5.24	4.32|4.32	0.51571|0.51571	.|.	0.843002|.	0.11148|.	N|.	0.594512|.	T|T	0.36826|0.36826	0.0981|0.0981	L|L	0.29908|0.29908	0.895|0.895	0.28018|0.28018	N|N	0.934659|0.934659	D;D|.	0.58970|.	0.984;0.984|.	P;P|.	0.52710|.	0.519;0.707|.	T|T	0.18304|0.18304	-1.0341|-1.0341	10|5	0.05959|.	T|.	0.93|.	.|.	11.881|11.881	0.52576|0.52576	0.0:0.7881:0.1358:0.076|0.0:0.7881:0.1358:0.076	.|.	993;715|.	F5GZB4;Q8IVV2-2|.	.;.|.	K|Q	715;993;715|973	ENSP00000381707:E715K;ENSP00000444586:E993K|.	ENSP00000338222:E715K|.	E|R	-|-	1|2	0|0	LOXHD1|LOXHD1	42394128|42394128	0.770000|0.770000	0.28543|0.28543	0.939000|0.939000	0.37840|0.37840	0.910000|0.910000	0.53928|0.53928	1.516000|1.516000	0.35856|0.35856	2.450000|2.450000	0.82876|0.82876	0.448000|0.448000	0.29417|0.29417	GAA|CGA	LOXHD1	-	NULL		0.612	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	HGNC	protein_coding		C	NM_144612		44140130	-1	no_errors	ENST00000536736	ensembl	human	known	70_37	missense	SNP	0.440	T
LRAT	9227	genome.wustl.edu	37	4	155665567	155665567	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:155665567C>T	ENST00000336356.3	+	2	342	c.89C>T	c.(88-90)gCg>gTg	p.A30V	LRAT_ENST00000507827.1_Missense_Mutation_p.A30V	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	30					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TCGGGCGCCGCGGGCGAAGAC	0.567																																																	0													59.0	59.0	59.0					4																	155665567		2203	4300	6503	SO:0001583	missense	9227			AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.89C>T	4.37:g.155665567C>T	ENSP00000337224:p.Ala30Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K983|Q8N716	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.A30V	ENST00000336356.3	37	c.89	CCDS3789.1	4	.	.	.	.	.	.	.	.	.	.	C	5.566	0.289335	0.10513	.	.	ENSG00000121207	ENST00000502525;ENST00000507827;ENST00000336356	T;T	0.43294	0.95;0.95	5.02	2.32	0.28847	.	1.100060	0.06676	N	0.767073	T	0.25568	0.0622	N	0.22421	0.69	0.09310	N	1	B	0.28605	0.217	B	0.14023	0.01	T	0.19778	-1.0295	10	0.31617	T	0.26	.	4.4139	0.11447	0.1415:0.4143:0.3606:0.0836	.	30	O95237	LRAT_HUMAN	V	30	ENSP00000426761:A30V;ENSP00000337224:A30V	ENSP00000337224:A30V	A	+	2	0	LRAT	155885017	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.849000	0.27723	0.276000	0.22118	-0.175000	0.13238	GCG	LRAT	-	NULL		0.567	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRAT	HGNC	protein_coding	OTTHUMT00000365246.1	C	NM_004744		155665567	+1	no_errors	ENST00000336356	ensembl	human	known	70_37	missense	SNP	0.000	T
LRP1	4035	genome.wustl.edu	37	12	57592445	57592445	+	Missense_Mutation	SNP	G	G	A	rs369789736		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:57592445G>A	ENST00000243077.3	+	60	10134	c.9668G>A	c.(9667-9669)cGc>cAc	p.R3223H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3223					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCTCCAATCGCCACGTTGGT	0.592																																																	0								G	HIS/ARG	0,4406		0,0,2203	45.0	33.0	37.0		9668	4.4	1.0	12		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP1	NM_002332.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3223/4545	57592445	1,13005	2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9668G>A	12.37:g.57592445G>A	ENSP00000243077:p.Arg3223His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R3223H	ENST00000243077.3	37	c.9668	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938323	0.73557	0.0	1.16E-4	ENSG00000123384	ENST00000243077	D	0.97553	-4.43	4.39	4.39	0.52855	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.98131	0.9383	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98408	1.0571	10	0.52906	T	0.07	.	16.2482	0.82460	0.0:0.0:1.0:0.0	.	3223	Q07954	LRP1_HUMAN	H	3223	ENSP00000243077:R3223H	ENSP00000243077:R3223H	R	+	2	0	LRP1	55878712	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	9.357000	0.97099	2.434000	0.82447	0.561000	0.74099	CGC	LRP1	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.592	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	G	NM_002332		57592445	+1	no_errors	ENST00000243077	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC20	55222	genome.wustl.edu	37	10	72100450	72100450	+	Missense_Mutation	SNP	C	C	T	rs374147810		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:72100450C>T	ENST00000355790.4	-	3	568	c.91G>A	c.(91-93)Gag>Aag	p.E31K	LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000373224.1_Missense_Mutation_p.E31K|LRRC20_ENST00000395010.1_Missense_Mutation_p.E31K|LRRC20_ENST00000395011.1_Intron	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	31										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						AGCTTGCACTCGGCCAGGTCT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20990	0.001		0.0	False		,,,				2504	0.0																0								C	LYS/GLU,,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	158.0	129.0	139.0		91,,91	5.7	1.0	10		139	0,8600		0,0,4300	no	missense,intron,missense	LRRC20	NM_018205.2,NM_018239.2,NM_207119.1	56,,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,,benign	31/129,,31/185	72100450	1,13005	2203	4300	6503	SO:0001583	missense	55222			BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.91G>A	10.37:g.72100450C>T	ENSP00000348043:p.Glu31Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E31K	ENST00000355790.4	37	c.91	CCDS7302.1	10	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439406	0.63067	2.27E-4	0.0	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395010;ENST00000357631;ENST00000446961	T;T;T;T;T	0.52295	0.67;0.67;0.68;0.68;0.67	5.74	5.74	0.90152	.	0.148678	0.64402	D	0.000011	T	0.34048	0.0884	L	0.48642	1.525	0.37874	D	0.930142	P;B	0.43909	0.821;0.34	B;B	0.29524	0.103;0.026	T	0.37957	-0.9683	10	0.09084	T	0.74	-19.7226	16.6472	0.85179	0.0:1.0:0.0:0.0	.	31;31	Q8TCA0-3;Q8TCA0	.;LRC20_HUMAN	K	31	ENSP00000362321:E31K;ENSP00000348043:E31K;ENSP00000378457:E31K;ENSP00000350255:E31K;ENSP00000413745:E31K	ENSP00000348043:E31K	E	-	1	0	LRRC20	71770456	0.998000	0.40836	0.995000	0.50966	0.997000	0.91878	3.707000	0.54838	2.715000	0.92844	0.655000	0.94253	GAG	LRRC20	-	NULL		0.547	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC20	HGNC	protein_coding	OTTHUMT00000048510.1	C	NM_018239		72100450	-1	no_errors	ENST00000355790	ensembl	human	known	70_37	missense	SNP	0.994	T
LRRK1	79705	genome.wustl.edu	37	15	101597256	101597256	+	Splice_Site	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:101597256G>T	ENST00000388948.3	+	28	4886		c.e28+1		RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Splice_Site	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCAGAGAAGGTACTTGGGGA	0.642																																																	0													46.0	53.0	51.0					15																	101597256		2024	4174	6198	SO:0001630	splice_region_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4527+1G>T	15.37:g.101597256G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	e27+1	ENST00000388948.3	37	c.4527+1	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	g	16.08	3.022164	0.54576	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3987	0.90509	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRK1	99414779	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	9.543000	0.98089	2.351000	0.79841	0.486000	0.48141	.	LRRK1	-	-		0.642	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	G	NM_024652	Intron	101597256	+1	no_errors	ENST00000388948	ensembl	human	known	70_37	splice_site	SNP	1.000	T
LYAR	55646	genome.wustl.edu	37	4	4281444	4281444	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:4281444G>A	ENST00000343470.4	-	5	510	c.270C>T	c.(268-270)gtC>gtT	p.V90V	LYAR_ENST00000452476.1_Silent_p.V90V	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	90						nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTTGGGGCTGACATTGGGTC	0.328																																																	0													56.0	60.0	59.0					4																	4281444		2202	4299	6501	SO:0001819	synonymous_variant	55646			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.270C>T	4.37:g.4281444G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVS4|Q6FI78|Q9NYS1	Silent	SNP	pfam_Znf_C2H2_LYAR	p.V90	ENST00000343470.4	37	c.270	CCDS3374.1	4																																																																																			LYAR	-	NULL		0.328	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYAR	HGNC	protein_coding	OTTHUMT00000246800.2	G	NM_017816		4281444	-1	no_errors	ENST00000343470	ensembl	human	known	70_37	silent	SNP	1.000	A
MAP1A	4130	genome.wustl.edu	37	15	43821418	43821418	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:43821418G>A	ENST00000300231.5	+	4	8197	c.7747G>A	c.(7747-7749)Gag>Aag	p.E2583K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E2583K|MAP1A_ENST00000382031.1_Missense_Mutation_p.E2821K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2583					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.E2583K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCTGACCCCGAGGGGCTCAG	0.667																																																	1	Substitution - Missense(1)	lung(1)											29.0	33.0	32.0					15																	43821418		1864	4080	5944	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7747G>A	15.37:g.43821418G>A	ENSP00000300231:p.Glu2583Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.E2583K	ENST00000300231.5	37	c.7747	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908701	0.52439	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.02498	4.34;4.27;4.34	4.95	4.95	0.65309	.	.	.	.	.	T	0.12220	0.0297	L	0.57536	1.79	0.51012	D	0.999903	D	0.76494	0.999	D	0.63488	0.915	T	0.00394	-1.1767	9	0.72032	D	0.01	-19.0772	18.3795	0.90445	0.0:0.0:1.0:0.0	.	2583	P78559	MAP1A_HUMAN	K	2821;2583;2583	ENSP00000371462:E2821K;ENSP00000382380:E2583K;ENSP00000300231:E2583K	ENSP00000300231:E2583K	E	+	1	0	MAP1A	41608710	1.000000	0.71417	0.961000	0.40146	0.978000	0.69477	4.880000	0.63107	2.557000	0.86248	0.462000	0.41574	GAG	MAP1A	-	NULL		0.667	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43821418	+1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	0.998	A
MAPK8IP3	23162	genome.wustl.edu	37	16	1774567	1774567	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:1774567G>C	ENST00000250894.4	+	2	485	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E110Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	110					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GAAATTCATTGAGTTTGAAGA	0.532																																																	0													62.0	65.0	64.0					16																	1774567		1965	4175	6140	SO:0001583	missense	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.328G>C	16.37:g.1774567G>C	ENSP00000250894:p.Glu110Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.E110Q	ENST00000250894.4	37	c.328	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192660	0.58017	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.47869	3.1;0.83	5.13	5.13	0.70059	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.999;0.996	D;D;D;D	0.91635	0.986;0.999;0.998;0.991	T	0.71692	-0.4516	10	0.87932	D	0	-29.7794	17.3347	0.87277	0.0:0.0:1.0:0.0	.	110;110;110;110	B7ZMF3;E9PFH7;Q9UPT6;Q9UPT6-2	.;.;JIP3_HUMAN;.	Q	110	ENSP00000250894:E110Q;ENSP00000348290:E110Q	ENSP00000250894:E110Q	E	+	1	0	MAPK8IP3	1714568	1.000000	0.71417	0.990000	0.47175	0.447000	0.32167	9.651000	0.98493	2.384000	0.81235	0.563000	0.77884	GAG	MAPK8IP3	-	pfam_JNK/Rab-associated_protein-1_N		0.532	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	G	NM_001040439		1774567	+1	no_errors	ENST00000250894	ensembl	human	known	70_37	missense	SNP	1.000	C
MAST1	22983	genome.wustl.edu	37	19	12978584	12978584	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:12978584G>C	ENST00000251472.4	+	20	2398	c.2359G>C	c.(2359-2361)Gag>Cag	p.E787Q		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCTGGAGGGAGAGGCCAGTCC	0.697																																																	0													6.0	6.0	6.0					19																	12978584		2105	4126	6231	SO:0001583	missense	22983			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2359G>C	19.37:g.12978584G>C	ENSP00000251472:p.Glu787Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E787Q	ENST00000251472.4	37	c.2359	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897844	0.72639	.	.	ENSG00000105613	ENST00000251472	T	0.66815	-0.23	4.33	4.33	0.51752	.	0.225469	0.34725	N	0.003740	T	0.60117	0.2244	L	0.42245	1.32	0.39121	D	0.96165	P	0.41910	0.764	B	0.40602	0.334	T	0.65327	-0.6195	10	0.40728	T	0.16	-29.9655	14.7	0.69150	0.0:0.0:1.0:0.0	.	787	Q9Y2H9	MAST1_HUMAN	Q	787	ENSP00000251472:E787Q	ENSP00000251472:E787Q	E	+	1	0	MAST1	12839584	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	7.630000	0.83225	2.151000	0.67156	0.549000	0.68633	GAG	MAST1	-	NULL		0.697	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	G	NM_014975		12978584	+1	no_errors	ENST00000251472	ensembl	human	known	70_37	missense	SNP	0.999	C
MCF2L2	23101	genome.wustl.edu	37	3	182937697	182937697	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:182937697C>T	ENST00000328913.3	-	21	2614	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E773K	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	773	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCAGGAGACTCGAAATCCAGC	0.353																																																	0													78.0	80.0	79.0					3																	182937697		2203	4300	6503	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2317G>A	3.37:g.182937697C>T	ENSP00000328118:p.Glu773Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E773K	ENST00000328913.3	37	c.2317	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265876	0.59540	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.62941	-0.01;-0.01	4.05	4.05	0.47172	Dbl homology (DH) domain (5);	0.145768	0.31922	N	0.006857	T	0.53158	0.1779	N	0.08118	0	0.80722	D	1	D	0.67145	0.996	P	0.55545	0.778	T	0.60182	-0.7313	10	0.59425	D	0.04	.	12.0363	0.53427	0.0:1.0:0.0:0.0	.	773	Q86YR7	MF2L2_HUMAN	K	773	ENSP00000328118:E773K;ENSP00000420070:E773K	ENSP00000328118:E773K	E	-	1	0	MCF2L2	184420391	0.398000	0.25279	0.933000	0.37362	0.962000	0.63368	0.726000	0.25984	2.549000	0.85964	0.655000	0.94253	GAG	MCF2L2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.353	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	C	NM_015078		182937697	-1	no_errors	ENST00000328913	ensembl	human	known	70_37	missense	SNP	0.962	T
MEP1A	4224	genome.wustl.edu	37	6	46806754	46806754	+	Missense_Mutation	SNP	C	C	T	rs565677690		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:46806754C>T	ENST00000230588.4	+	14	2131	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	708	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CACGGGGGAGCGCTGTCAGGC	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19821	0.0		0.0	False		,,,				2504	0.0																0													144.0	130.0	135.0					6																	46806754		2203	4300	6503	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2122C>T	6.37:g.46806754C>T	ENSP00000230588:p.Arg708Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.R708C	ENST00000230588.4	37	c.2122	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925138	0.73213	.	.	ENSG00000112818	ENST00000230588	D	0.93811	-3.29	5.8	4.88	0.63580	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.383602	0.31963	N	0.006797	D	0.94417	0.8204	M	0.71036	2.16	0.50039	D	0.999846	D;D	0.76494	0.999;0.996	P;P	0.57283	0.817;0.803	D	0.94627	0.7818	10	0.87932	D	0	-9.3579	14.1676	0.65488	0.2205:0.7795:0.0:0.0	.	736;708	B7ZL91;Q16819	.;MEP1A_HUMAN	C	708	ENSP00000230588:R708C	ENSP00000230588:R708C	R	+	1	0	MEP1A	46914713	0.998000	0.40836	1.000000	0.80357	0.476000	0.33039	2.820000	0.48057	2.751000	0.94390	0.650000	0.86243	CGC	MEP1A	-	pfam_EG-like_dom,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom		0.587	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	C	NM_005588		46806754	+1	no_errors	ENST00000230588	ensembl	human	known	70_37	missense	SNP	0.991	T
MDN1	23195	genome.wustl.edu	37	6	90372609	90372609	+	Missense_Mutation	SNP	C	C	T	rs373924943		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:90372609C>T	ENST00000369393.3	-	86	14429	c.14314G>A	c.(14314-14316)Gac>Aac	p.D4772N	MDN1_ENST00000428876.1_Missense_Mutation_p.D4772N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4772					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCTAGTTTGTCAGCTTCCTCA	0.468																																																	0								C	ASN/ASP	0,4406		0,0,2203	316.0	274.0	288.0		14314	4.5	1.0	6		288	1,8599	1.2+/-3.3	0,1,4299	no	missense	MDN1	NM_014611.1	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	4772/5597	90372609	1,13005	2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14314G>A	6.37:g.90372609C>T	ENSP00000358400:p.Asp4772Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D4772N	ENST00000369393.3	37	c.14314	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013618	0.75161	0.0	1.16E-4	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03065	4.06;4.06	5.39	4.52	0.55395	.	0.059112	0.64402	N	0.000005	T	0.02119	0.0066	M	0.66506	2.035	0.54753	D	0.999989	B	0.25390	0.125	B	0.26517	0.07	T	0.28459	-1.0043	10	0.11182	T	0.66	.	13.9636	0.64196	0.0:0.9272:0.0:0.0728	.	4772	Q9NU22	MDN1_HUMAN	N	4772	ENSP00000358400:D4772N;ENSP00000413970:D4772N	ENSP00000358400:D4772N	D	-	1	0	MDN1	90429330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.884000	0.75600	1.408000	0.46895	0.655000	0.94253	GAC	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90372609	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T
MDN1	23195	genome.wustl.edu	37	6	90422436	90422436	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:90422436G>A	ENST00000369393.3	-	48	7403	c.7288C>T	c.(7288-7290)Ctt>Ttt	p.L2430F	MDN1_ENST00000428876.1_Missense_Mutation_p.L2430F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2430					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCATGCCAAGAATGGAGTCT	0.463																																																	0													90.0	88.0	88.0					6																	90422436		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7288C>T	6.37:g.90422436G>A	ENSP00000358400:p.Leu2430Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L2430F	ENST00000369393.3	37	c.7288	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703825	0.48412	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03689	3.84;3.84	5.74	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.01661	0.0053	N	0.24115	0.695	0.40453	D	0.980168	D	0.56035	0.974	P	0.49752	0.621	T	0.64368	-0.6424	10	0.20046	T	0.44	.	8.2977	0.31995	0.0701:0.0:0.6483:0.2816	.	2430	Q9NU22	MDN1_HUMAN	F	2430	ENSP00000358400:L2430F;ENSP00000413970:L2430F	ENSP00000358400:L2430F	L	-	1	0	MDN1	90479157	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.607000	0.54102	1.430000	0.47334	0.563000	0.77884	CTT	MDN1	-	pirsf_Midasin		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	G			90422436	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	A
MCHR2	84539	genome.wustl.edu	37	6	100391006	100391006	+	Missense_Mutation	SNP	C	C	T	rs201793988		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:100391006C>T	ENST00000281806.2	-	4	720	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	MCHR2_ENST00000369212.2_Missense_Mutation_p.V136I	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AATGGTTGGACGAGGGCAAAG	0.463																																																	0													103.0	95.0	98.0					6																	100391006		2203	4300	6503	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.406G>A	6.37:g.100391006C>T	ENSP00000281806:p.Val136Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.V136I	ENST00000281806.2	37	c.406	CCDS5044.1	6	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201596	0.79015	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.19806	2.12;2.12;2.12	4.95	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000046	T	0.34077	0.0885	M	0.77486	2.375	0.33312	D	0.566215	D	0.89917	1.0	D	0.87578	0.998	T	0.40794	-0.9544	10	0.72032	D	0.01	.	11.8062	0.52156	0.0:0.9135:0.0:0.0865	.	136	Q969V1	MCHR2_HUMAN	I	136	ENSP00000403490:V136I;ENSP00000281806:V136I;ENSP00000358214:V136I	ENSP00000281806:V136I	V	-	1	0	MCHR2	100497727	0.990000	0.36364	1.000000	0.80357	0.993000	0.82548	2.864000	0.48404	1.087000	0.41251	0.655000	0.94253	GTC	MCHR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor		0.463	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	C	NM_032503		100391006	-1	no_errors	ENST00000281806	ensembl	human	known	70_37	missense	SNP	1.000	T
MFN2	9927	genome.wustl.edu	37	1	12049379	12049379	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:12049379G>A	ENST00000235329.5	+	3	476	c.154G>A	c.(154-156)Gag>Aag	p.E52K	MFN2_ENST00000444836.1_Missense_Mutation_p.E52K|MFN2_ENST00000497302.1_3'UTR	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	52					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CTACATCCAGGAGAGCGCCAC	0.537																																																	0													80.0	77.0	78.0					1																	12049379		2203	4300	6503	SO:0001583	missense	9927			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.154G>A	1.37:g.12049379G>A	ENSP00000235329:p.Glu52Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.E52K	ENST00000235329.5	37	c.154	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.668855	0.96754	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	D;D;D	0.99422	-5.88;-5.88;-4.05	5.77	5.77	0.91146	.	0.051625	0.85682	D	0.000000	D	0.99208	0.9725	M	0.77486	2.375	0.80722	D	1	P	0.47841	0.901	P	0.49953	0.627	D	0.99849	1.1069	9	.	.	.	-32.0868	18.9719	0.92718	0.0:0.0:1.0:0.0	.	52	O95140	MFN2_HUMAN	K	52	ENSP00000416338:E52K;ENSP00000235329:E52K;ENSP00000412023:E52K	.	E	+	1	0	MFN2	11971966	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.476000	0.97823	2.723000	0.93209	0.655000	0.94253	GAG	MFN2	-	NULL		0.537	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	G	NM_014874		12049379	+1	no_errors	ENST00000235329	ensembl	human	known	70_37	missense	SNP	1.000	A
URM1	81605	genome.wustl.edu	37	9	131154981	131154981	+	IGR	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:131154981G>A	ENST00000372853.4	+	0	1368				MIR219-2_ENST00000385220.1_lincRNA|RP11-339B21.11_ENST00000609303.1_lincRNA	NM_001265582.1|NM_030914.3	NP_001252511.1|NP_112176.1			ubiquitin related modifier 1											cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						AATCAGTGGCGAAGCCCCTGA	0.627																																																	0													43.0	49.0	47.0					9																	131154981		1562	3566	5128	SO:0001628	intergenic_variant	407003			AK097029	CCDS6900.1, CCDS48035.1, CCDS59148.1	9q34.13	2010-06-24	2010-06-24	2006-11-28	ENSG00000167118	ENSG00000167118			28378	protein-coding gene	gene with protein product		612693	"""chromosome 9 open reading frame 74"", ""ubiquitin related modifier 1 homolog (S. cerevisiae)"""	C9orf74		16046629, 16864801	Standard	NM_030914		Approved	MGC2668	uc011may.2	Q9BTM9	OTTHUMG00000020742		9.37:g.131154981G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000372853.4	37	NULL	CCDS6900.1	9																																																																																			MIR219-2	-	-		0.627	URM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR219-2	HGNC	protein_coding	OTTHUMT00000054422.1	G	NM_030914		131154981	-1	no_errors	ENST00000385220	ensembl	human	known	70_37	rna	SNP	1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49430960	49430960	+	Silent	SNP	C	C	T	rs368612015		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:49430960C>T	ENST00000301067.7	-	34	10178	c.10179G>A	c.(10177-10179)ccG>ccA	p.P3393P	KMT2D_ENST00000549743.1_5'UTR	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3393	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCAATTGCTGCGGCTTCATGC	0.537																																																	0								C		0,4192		0,0,2096	50.0	50.0	50.0		10179	-6.5	0.9	12		50	2,8472		0,2,4235	no	coding-synonymous	MLL2	NM_003482.3		0,2,6331	TT,TC,CC		0.0236,0.0,0.0158		3393/5538	49430960	2,12664	2096	4237	6333	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10179G>A	12.37:g.49430960C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P3393	ENST00000301067.7	37	c.10179	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	C			49430960	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	0.555	T
KMT2C	58508	genome.wustl.edu	37	7	151945201	151945201	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:151945201G>A	ENST00000262189.6	-	14	2536	c.2318C>T	c.(2317-2319)tCa>tTa	p.S773L	KMT2C_ENST00000355193.2_Missense_Mutation_p.S773L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	773					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TATGTCTGCTGATGATGAAAA	0.423																																																	0													170.0	150.0	156.0					7																	151945201		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2318C>T	7.37:g.151945201G>A	ENSP00000262189:p.Ser773Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S773L	ENST00000262189.6	37	c.2318	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	3.368	-0.129092	0.06753	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83992	-1.79;-1.79	5.46	3.63	0.41609	.	1.240240	0.06155	N	0.674957	T	0.74794	0.3763	N	0.24115	0.695	0.21579	N	0.999632	B	0.28713	0.22	B	0.22386	0.039	T	0.62599	-0.6820	10	0.62326	D	0.03	.	11.2294	0.48903	0.0696:0.1279:0.8025:0.0	.	773	Q8NEZ4	MLL3_HUMAN	L	773	ENSP00000262189:S773L;ENSP00000347325:S773L	ENSP00000262189:S773L	S	-	2	0	MLL3	151576134	0.094000	0.21725	0.002000	0.10522	0.060000	0.15804	2.152000	0.42272	0.649000	0.30751	0.650000	0.86243	TCA	MLL3	-	NULL		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151945201	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.011	A
MLLT4	4301	genome.wustl.edu	37	6	168227430	168227430	+	5'Flank	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:168227430C>G	ENST00000447894.2	+	0	0				MLLT4_ENST00000344191.4_5'Flank|MLLT4_ENST00000392108.3_5'Flank|MLLT4-AS1_ENST00000359760.5_RNA|MLLT4_ENST00000366806.2_5'Flank|MLLT4_ENST00000392112.1_5'Flank|MLLT4_ENST00000351017.4_5'Flank|MLLT4_ENST00000400822.3_5'Flank			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GGCCCGCCCTCCGACACCTCC	0.786			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0																																										SO:0001631	upstream_gene_variant	653483			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031		6.37:g.168227430C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	RNA	SNP	-	NULL	ENST00000447894.2	37	NULL		6																																																																																			MLLT4-AS1	-	-		0.786	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4-AS1	HGNC	protein_coding	OTTHUMT00000372077.1	C	NM_005936		168227430	-1	no_errors	ENST00000357510	ensembl	human	known	70_37	rna	SNP	0.485	G
MPPE1	65258	genome.wustl.edu	37	18	11884235	11884235	+	3'UTR	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:11884235G>C	ENST00000588072.1	-	0	2621				MPPE1_ENST00000317235.7_3'UTR|MPPE1_ENST00000592755.1_5'UTR|MPPE1_ENST00000309976.9_3'UTR|MPPE1_ENST00000344987.7_3'UTR|GNAL_ENST00000334049.6_3'UTR	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1						ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TGAGAAAACAGATTTGTTGTA	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	65258			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.*209C>G	18.37:g.11884235G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	RNA	SNP	-	NULL	ENST00000588072.1	37	NULL	CCDS11853.1	18																																																																																			MPPE1	-	-		0.338	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPE1	HGNC	protein_coding	OTTHUMT00000254562.2	G	NM_023075		11884235	-1	no_errors	ENST00000592755	ensembl	human	putative	70_37	rna	SNP	0.204	C
MRFAP1	93621	genome.wustl.edu	37	4	6642923	6642923	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:6642923G>C	ENST00000320912.4	+	2	987	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	MRFAP1_ENST00000507420.1_Missense_Mutation_p.E112Q|MRFAP1_ENST00000382581.4_Missense_Mutation_p.E112Q	NM_001272053.1	NP_001258982.1			Morf4 family associated protein 1											lung(1)	1						GAAGATGGCAGAGATGCTGGT	0.697																																																	0													52.0	55.0	54.0					4																	6642923		2203	4300	6503	SO:0001583	missense	93621			AF116272	CCDS3389.1	4p16.1	2011-01-27	2011-01-27		ENSG00000179010	ENSG00000179010			24549	protein-coding gene	gene with protein product						15367658	Standard	NM_033296		Approved	PAM14, PGR1	uc003gjh.2	Q9Y605	OTTHUMG00000125504	ENST00000320912.4:c.334G>C	4.37:g.6642923G>C	ENSP00000318352:p.Glu112Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E112Q	ENST00000320912.4	37	c.334	CCDS3389.1	4	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330859	0.81690	.	.	ENSG00000179010	ENST00000320912;ENST00000507420;ENST00000382581	.	.	.	4.11	4.11	0.48088	.	0.113194	0.31697	N	0.007206	T	0.37652	0.1011	N	0.17082	0.46	0.25548	N	0.987112	D	0.67145	0.996	P	0.59948	0.866	T	0.14868	-1.0457	9	0.62326	D	0.03	0.0513	12.1375	0.53979	0.0:0.0:1.0:0.0	.	112	Q9Y605	MOFA1_HUMAN	Q	112	.	ENSP00000318352:E112Q	E	+	1	0	MRFAP1	6693824	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.865000	0.48412	2.590000	0.87494	0.561000	0.74099	GAG	MRFAP1	-	NULL		0.697	MRFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRFAP1	HGNC	protein_coding	OTTHUMT00000246831.1	G	NM_033296		6642923	+1	no_errors	ENST00000320912	ensembl	human	known	70_37	missense	SNP	0.997	C
MRPS18B	28973	genome.wustl.edu	37	6	30585715	30585715	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:30585715G>A	ENST00000259873.4	+	1	230	c.73G>A	c.(73-75)Gtt>Att	p.V25I	MRPS18B_ENST00000506373.2_Missense_Mutation_p.V25I|PPP1R10_ENST00000376511.2_5'Flank|PPP1R10_ENST00000484449.1_5'Flank|AL662800.1_ENST00000410962.1_RNA|MRPS18B_ENST00000472229.1_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	25					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						TTCTCACAGAGTTCAGGTAAC	0.502																																																	0													160.0	139.0	146.0					6																	30585715		2203	4300	6503	SO:0001583	missense	28973			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.73G>A	6.37:g.30585715G>A	ENSP00000259873:p.Val25Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.V25I	ENST00000259873.4	37	c.73	CCDS4682.1	6	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025770	0.54683	.	.	ENSG00000204568	ENST00000259873;ENST00000506373;ENST00000376508	T	0.46451	0.87	5.45	5.45	0.79879	.	0.307262	0.31673	N	0.007258	T	0.28896	0.0717	L	0.46157	1.445	0.29878	N	0.826242	P;P;P	0.44429	0.663;0.835;0.745	B;B;B	0.43889	0.416;0.435;0.251	T	0.14531	-1.0469	10	0.52906	T	0.07	.	14.6523	0.68805	0.0:0.0:1.0:0.0	.	25;25;25	B4DFG6;Q5STN0;Q9Y676	.;.;RT18B_HUMAN	I	25	ENSP00000259873:V25I	ENSP00000259873:V25I	V	+	1	0	MRPS18B	30693694	1.000000	0.71417	0.999000	0.59377	0.525000	0.34531	2.765000	0.47621	2.836000	0.97738	0.655000	0.94253	GTT	MRPS18B	-	NULL		0.502	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18B	HGNC	protein_coding	OTTHUMT00000076584.2	G			30585715	+1	no_errors	ENST00000259873	ensembl	human	known	70_37	missense	SNP	0.998	A
MT-ND5	4540	genome.wustl.edu	37	M	13958	13958	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrM:13958G>A	ENST00000361567.2	+	1	1622	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	541					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						CCCCTATCTAGGCCTTCTTAC	0.428																																																	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.1622G>A	M.37:g.13958G>A	ENSP00000354813:p.Gly541Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	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.G541D	ENST00000361567.2	37	c.1622		MT																																																																																			MT-ND5	-	pfam_NADH_DH_su5_C		0.428	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		13958	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	A
MUC16	94025	genome.wustl.edu	37	19	9003293	9003293	+	Splice_Site	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:9003293C>T	ENST00000397910.4	-	50	40345	c.40142G>A	c.(40141-40143)aGg>aAg	p.R13381K	MUC16_ENST00000380951.5_Splice_Site_p.R22K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13383	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGTCTCACCTGAGCAAGGT	0.488																																																	0													89.0	77.0	81.0					19																	9003293		1937	4137	6074	SO:0001630	splice_region_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40142+1G>A	19.37:g.9003293C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.R13381K	ENST00000397910.4	37	c.40142	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.40|17.40	3.378987|3.378987	0.61735|0.61735	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.26957	.|1.7;1.7	2.58|2.58	2.58|2.58	0.30949|0.30949	.|SEA (1);	.|.	.|.	.|.	.|.	T|T	0.52224|0.52224	0.1721|0.1721	M|M	0.88241|0.88241	2.94|2.94	.|.	.|.	.|.	.|D;P	.|0.56968	.|0.978;0.799	.|D;P	.|0.74348	.|0.983;0.758	T|T	0.66320|0.66320	-0.5953|-0.5953	4|7	.|.	.|.	.|.	-13.0678|-13.0678	8.7824|8.7824	0.34800|0.34800	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|21026;13381	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	S|K	221|13381;22	.|ENSP00000381008:R13381K;ENSP00000370338:R22K	.|.	G|R	-|-	1|2	0|0	MUC16|MUC16	8864293|8864293	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.057000|0.057000	0.15508|0.15508	2.996000|2.996000	0.49449|0.49449	1.739000|1.739000	0.51704|0.51704	0.455000|0.455000	0.32223|0.32223	GGC|AGG	MUC16	-	pfam_SEA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690	Missense_Mutation	9003293	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.984	T
MUC16	94025	genome.wustl.edu	37	19	9014186	9014186	+	Missense_Mutation	SNP	G	G	C	rs386806627		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:9014186G>C	ENST00000397910.4	-	32	38665	c.38462C>G	c.(38461-38463)tCt>tGt	p.S12821C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12823				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGGCGCAGAGGTCTGATG	0.537																																																	0													141.0	127.0	132.0					19																	9014186		1980	4162	6142	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38462C>G	19.37:g.9014186G>C	ENSP00000381008:p.Ser12821Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S12821C	ENST00000397910.4	37	c.38462	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	6.647	0.487918	0.12641	.	.	ENSG00000181143	ENST00000397910	T	0.30714	1.52	1.27	0.175	0.15045	.	.	.	.	.	T	0.28566	0.0707	M	0.79805	2.47	.	.	.	P	0.48640	0.913	B	0.37888	0.26	T	0.38520	-0.9657	8	0.87932	D	0	.	3.6191	0.08089	0.2656:0.0:0.7344:0.0	.	12821	B5ME49	.	C	12821	ENSP00000381008:S12821C	ENSP00000381008:S12821C	S	-	2	0	MUC16	8875186	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.225000	0.09151	0.114000	0.18032	0.298000	0.19748	TCT	MUC16	-	NULL		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9014186	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	C
MUC5B	727897	genome.wustl.edu	37	11	1265813	1265813	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:1265813C>T	ENST00000529681.1	+	31	7761	c.7703C>T	c.(7702-7704)tCc>tTc	p.S2568F	MUC5B_ENST00000447027.1_Missense_Mutation_p.S2571F|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2568	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACACCCTCCTCCACTCCA	0.657																																																	0													72.0	92.0	86.0					11																	1265813		2036	4177	6213	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7703C>T	11.37:g.1265813C>T	ENSP00000436812:p.Ser2568Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S2571F	ENST00000529681.1	37	c.7712	CCDS44515.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.278|7.278	0.608426|0.608426	0.14002|0.14002	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000537836|ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.|T;T	.|0.21191	.|2.02;2.21	2.87|2.87	1.9|1.9	0.25705|0.25705	.|.	.|.	.|.	.|.	.|.	T|T	0.26484|0.26484	0.0647|0.0647	M|M	0.67397|0.67397	2.05|2.05	0.09310|0.09310	N|N	1|1	.|D;D	.|0.61080	.|0.968;0.989	.|P;P	.|0.47673	.|0.554;0.554	T|T	0.13202|0.13202	-1.0518|-1.0518	6|9	0.39692|0.87932	T|D	0.17|0	.|.	6.4504|6.4504	0.21900|0.21900	0.0:0.8414:0.0:0.1586|0.0:0.8414:0.0:0.1586	.|.	.|3206;2571	.|A7Y9J9;E9PBJ0	.|.;.	S|F	112|2568;2571;2540;2583	.|ENSP00000436812:S2568F;ENSP00000415793:S2571F	ENSP00000440615:P112S|ENSP00000343037:S2540F	P|S	+|+	1|2	0|0	MUC5B|MUC5B	1222389|1222389	0.000000|0.000000	0.05858|0.05858	0.003000|0.003000	0.11579|0.11579	0.025000|0.025000	0.11179|0.11179	-4.006000|-4.006000	0.00315|0.00315	0.482000|0.482000	0.27582|0.27582	0.195000|0.195000	0.17529|0.17529	CCT|TCC	MUC5B	-	NULL		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1265813	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.058	T
MUC5B	727897	genome.wustl.edu	37	11	1268629	1268629	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:1268629C>G	ENST00000529681.1	+	31	10577	c.10519C>G	c.(10519-10521)Cca>Gca	p.P3507A	MUC5B_ENST00000447027.1_Missense_Mutation_p.P3510A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3507	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACTCGACTCCAGCCCTGTC	0.667																																																	0													63.0	84.0	77.0					11																	1268629		2050	4167	6217	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10519C>G	11.37:g.1268629C>G	ENSP00000436812:p.Pro3507Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P3510A	ENST00000529681.1	37	c.10528	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	2.279	-0.365098	0.05103	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16073	2.37;2.55	1.37	-1.54	0.08584	.	.	.	.	.	T	0.15089	0.0364	L	0.50333	1.59	0.09310	N	1	B;B	0.31893	0.345;0.053	B;B	0.34489	0.184;0.006	T	0.29119	-1.0022	9	0.87932	D	0	.	5.5004	0.16825	0.1973:0.4102:0.3924:0.0	.	4035;3510	A7Y9J9;E9PBJ0	.;.	A	3507;3510;3479;3412	ENSP00000436812:P3507A;ENSP00000415793:P3510A	ENSP00000343037:P3479A	P	+	1	0	MUC5B	1225205	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.736000	0.00379	-0.346000	0.08312	0.297000	0.19635	CCA	MUC5B	-	NULL		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1268629	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.000	G
MUC5B	727897	genome.wustl.edu	37	11	1271163	1271163	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:1271163C>G	ENST00000529681.1	+	31	13111	c.13053C>G	c.(13051-13053)atC>atG	p.I4351M	MUC5B_ENST00000447027.1_Missense_Mutation_p.I4354M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4351	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGTCCACAATCCACCCCTCCT	0.647																																																	0													128.0	147.0	141.0					11																	1271163		2148	4231	6379	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13053C>G	11.37:g.1271163C>G	ENSP00000436812:p.Ile4351Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.I4354M	ENST00000529681.1	37	c.13062	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	2.764	-0.257238	0.05791	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.16196	2.36;2.54	2.07	2.07	0.26955	.	.	.	.	.	T	0.11281	0.0275	N	0.22421	0.69	0.09310	N	1	B;B	0.18968	0.032;0.018	B;B	0.04013	0.001;0.001	T	0.21759	-1.0236	9	0.87932	D	0	.	7.6308	0.28238	0.0:1.0:0.0:0.0	.	4824;4354	A7Y9J9;E9PBJ0	.;.	M	4351;4354;4295;4201;130	ENSP00000436812:I4351M;ENSP00000415793:I4354M	ENSP00000343037:I4295M	I	+	3	3	MUC5B	1227739	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	-0.004000	0.12878	1.167000	0.42706	0.184000	0.17185	ATC	MUC5B	-	NULL		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1271163	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.001	G
MYBPC2	4606	genome.wustl.edu	37	19	50940944	50940944	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:50940944G>A	ENST00000357701.5	+	7	592	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	181					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TACTGCAGGTGAGCTGGATTT	0.557																																																	0													81.0	86.0	84.0					19																	50940944		2067	4191	6258	SO:0001583	missense	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.541G>A	19.37:g.50940944G>A	ENSP00000350332:p.Glu181Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E181K	ENST00000357701.5	37	c.541	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	.	18.49	3.635172	0.67130	.	.	ENSG00000086967	ENST00000357701	T	0.57907	0.37	2.49	2.49	0.30216	.	0.000000	0.35262	U	0.003336	T	0.58104	0.2099	M	0.70595	2.14	0.40539	D	0.981002	P	0.40875	0.731	P	0.48770	0.589	T	0.58578	-0.7612	10	0.22706	T	0.39	.	12.7449	0.57276	0.0:0.0:1.0:0.0	.	181	Q14324	MYPC2_HUMAN	K	181	ENSP00000350332:E181K	ENSP00000350332:E181K	E	+	1	0	MYBPC2	55632756	1.000000	0.71417	0.841000	0.33234	0.677000	0.39632	8.259000	0.89855	1.701000	0.51217	0.401000	0.26515	GAG	MYBPC2	-	NULL		0.557	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	G	NM_004533		50940944	+1	no_errors	ENST00000357701	ensembl	human	known	70_37	missense	SNP	0.998	A
MYH3	4621	genome.wustl.edu	37	17	10534957	10534957	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:10534957C>T	ENST00000583535.1	-	36	5344	c.5257G>A	c.(5257-5259)Gag>Aag	p.E1753K	MYH3_ENST00000226209.7_Missense_Mutation_p.E1753K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1753					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCCTTCTCCTCAGCGTTCCTT	0.552											OREG0024180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													169.0	118.0	135.0					17																	10534957		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5257G>A	17.37:g.10534957C>T	ENSP00000464317:p.Glu1753Lys	Somatic	665	WXS	Illumina HiSeq	Phase_IV	Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1753K	ENST00000583535.1	37	c.5257	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.540156	0.96474	.	.	ENSG00000109063	ENST00000226209	D	0.83075	-1.68	5.0	5.0	0.66597	Myosin tail (1);	.	.	.	.	D	0.93996	0.8077	H	0.97315	3.98	0.51767	D	0.999935	P	0.45634	0.863	P	0.58780	0.845	D	0.95616	0.8676	9	0.87932	D	0	.	18.8428	0.92190	0.0:1.0:0.0:0.0	.	1753	P11055	MYH3_HUMAN	K	1753	ENSP00000226209:E1753K	ENSP00000226209:E1753K	E	-	1	0	MYH3	10475682	1.000000	0.71417	0.746000	0.31095	0.793000	0.44817	5.926000	0.70070	2.746000	0.94184	0.561000	0.74099	GAG	MYH3	-	pfam_Myosin_tail		0.552	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	C	NM_002470		10534957	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	missense	SNP	0.999	T
MYH9	4627	genome.wustl.edu	37	22	36680288	36680288	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:36680288C>T	ENST00000216181.5	-	40	5846	c.5616G>A	c.(5614-5616)ctG>ctA	p.L1872L	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1872					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						TGAGCTGCTTCAGGCGGGTAG	0.701			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													22.0	26.0	24.0					22																	36680288		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.5616G>A	22.37:g.36680288C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	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.L1872	ENST00000216181.5	37	c.5616	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail		0.701	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36680288	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	silent	SNP	1.000	T
MYO16	23026	genome.wustl.edu	37	13	109793204	109793204	+	Silent	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:109793204C>G	ENST00000357550.2	+	31	4619	c.4578C>G	c.(4576-4578)ctC>ctG	p.L1526L	MYO16_ENST00000356711.2_Silent_p.L1526L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGACCAACCTCAAGTACCCCG	0.711																																																	0													18.0	23.0	22.0					13																	109793204		2195	4289	6484	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4578C>G	13.37:g.109793204C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1526	ENST00000357550.2	37	c.4578	CCDS32008.1	13																																																																																			MYO16	-	NULL		0.711	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	C	NM_015011		109793204	+1	no_errors	ENST00000356711	ensembl	human	known	70_37	silent	SNP	0.998	G
MYO1H	283446	genome.wustl.edu	37	12	109872885	109872885	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:109872885G>T	ENST00000431443.2	+	20	2089	c.2089G>T	c.(2089-2091)Gaa>Taa	p.E697*	MYO1H_ENST00000310903.5_Nonsense_Mutation_p.E687*	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	697	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E687K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GTTTGCTACCGAAGATGCCTT	0.348																																																	1	Substitution - Missense(1)	lung(1)											99.0	91.0	93.0					12																	109872885		1825	4081	5906	SO:0001587	stop_gained	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2089G>T	12.37:g.109872885G>T	ENSP00000444076:p.Glu697*	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H3C6	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E697*	ENST00000431443.2	37	c.2089		12	.	.	.	.	.	.	.	.	.	.	G	38	7.007044	0.97998	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3452	0.74330	0.0:0.0:1.0:0.0	.	.	.	.	X	687;697	.	ENSP00000439182:E687X	E	+	1	0	MYO1H	108357268	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.111000	0.94308	2.285000	0.76669	0.655000	0.94253	GAA	MYO1H	-	smart_Myosin_head_motor_dom		0.348	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		G	NM_173597		109872885	+1	no_errors	ENST00000431443	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NR1H2	7376	genome.wustl.edu	37	19	50837329	50837329	+	Intron	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:50837329C>G	ENST00000600978.1	+	2	74				KCNC3_ENST00000474951.1_5'Flank|NAPSB_ENST00000527780.1_RNA|KCNC3_ENST00000391818.2_5'Flank|NR1H2_ENST00000542413.1_Intron			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2						cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGAAGCCGGACAAGCAGAGGC	0.637																																																	0																																										SO:0001627	intron_variant	256236			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000600978.1:c.75-3930C>G	19.37:g.50837329C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	RNA	SNP	-	NULL	ENST00000600978.1	37	NULL		19																																																																																			NAPSB	-	-		0.637	NR1H2-012	KNOWN	basic	processed_transcript	NAPSB	HGNC	protein_coding	OTTHUMT00000464783.1	C			50837329	-1	no_errors	ENST00000527780	ensembl	human	known	70_37	rna	SNP	0.987	G
NARS	4677	genome.wustl.edu	37	18	55273952	55273952	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:55273952G>A	ENST00000256854.5	-	10	1488	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	NARS_ENST00000423481.2_Silent_p.L96L	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	345					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TCAAAAGTCAGGAAAGGACAC	0.473																																																	0													185.0	154.0	164.0					18																	55273952		2203	4300	6503	SO:0001819	synonymous_variant	4677			D84273	CCDS32837.1	18q21.31	2014-05-06			ENSG00000134440	ENSG00000134440	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	7643	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 1, cytoplasmic"""	108410				6836455, 9421509	Standard	NM_004539		Approved	NARS1	uc002lgs.2	O43776	OTTHUMG00000180125	ENST00000256854.5:c.1033C>T	18.37:g.55273952G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG16|Q53GU6	Silent	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb	p.L345	ENST00000256854.5	37	c.1033	CCDS32837.1	18																																																																																			NARS	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb		0.473	NARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS	HGNC	protein_coding	OTTHUMT00000449872.2	G	NM_004539		55273952	-1	no_errors	ENST00000256854	ensembl	human	known	70_37	silent	SNP	1.000	A
NAV2	89797	genome.wustl.edu	37	11	20127225	20127225	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:20127225C>T	ENST00000396087.3	+	38	7069	c.6970C>T	c.(6970-6972)Cac>Tac	p.H2324Y	NAV2_ENST00000396085.1_Missense_Mutation_p.H2268Y|NAV2_ENST00000540292.1_Missense_Mutation_p.H2255Y|NAV2_ENST00000349880.4_Missense_Mutation_p.H2265Y|NAV2_ENST00000527559.2_Missense_Mutation_p.H2253Y|NAV2_ENST00000360655.4_Missense_Mutation_p.H2201Y|NAV2_ENST00000311043.8_Missense_Mutation_p.H1329Y|NAV2_ENST00000533917.1_Missense_Mutation_p.H1329Y	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2324					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GGTCTGGCATCACCTCAACCG	0.587																																																	0													111.0	102.0	105.0					11																	20127225		2203	4300	6503	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6970C>T	11.37:g.20127225C>T	ENSP00000379396:p.His2324Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.H2324Y	ENST00000396087.3	37	c.6970	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	c	28.5	4.929755	0.92389	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000003	T	0.70395	0.3219	M	0.86343	2.81	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.999	D;D;D;D	0.91635	0.998;0.986;0.999;0.995	T	0.75054	-0.3453	9	.	.	.	.	18.4317	0.90628	0.0:1.0:0.0:0.0	.	2268;1329;2265;2201	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	Y	2201;2268;2265;2324;2253;2255;1329;1329	ENSP00000353871:H2201Y;ENSP00000379394:H2268Y;ENSP00000309577:H2265Y;ENSP00000379396:H2324Y;ENSP00000435395:H2253Y;ENSP00000443489:H2255Y;ENSP00000437316:H1329Y;ENSP00000312169:H1329Y	.	H	+	1	0	NAV2	20083801	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.810000	0.86072	2.462000	0.83206	0.655000	0.94253	CAC	NAV2	-	NULL		0.587	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	C	NM_145117		20127225	+1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	T
NFAM1	150372	genome.wustl.edu	37	22	42807594	42807594	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:42807594C>T	ENST00000329021.5	-	2	307	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	90	Ig-like V-type.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						TAGGGCTCCTCTGTCCCTGGA	0.542																																																	0													187.0	168.0	174.0					22																	42807594		2203	4300	6503	SO:0001819	synonymous_variant	150372			BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.270G>A	22.37:g.42807594C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Silent	SNP	pfscan_Phos_immunorcpt_sig_ITAM	p.Q90	ENST00000329021.5	37	c.270	CCDS14034.1	22																																																																																			NFAM1	-	NULL		0.542	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFAM1	HGNC	protein_coding	OTTHUMT00000320541.1	C	NM_145912		42807594	-1	no_errors	ENST00000329021	ensembl	human	known	70_37	silent	SNP	0.001	T
NHS	4810	genome.wustl.edu	37	X	17745123	17745123	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:17745123C>G	ENST00000380060.3	+	6	3172	c.2834C>G	c.(2833-2835)tCa>tGa	p.S945*	NHS_ENST00000398097.3_Nonsense_Mutation_p.S789*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	966					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CTATCTAATTCAAGCACCGCT	0.438																																																	0													108.0	104.0	105.0					X																	17745123		2203	4300	6503	SO:0001587	stop_gained	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.2834C>G	X.37:g.17745123C>G	ENSP00000369400:p.Ser945*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	NULL	p.S945*	ENST00000380060.3	37	c.2834	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	43	10.003552	0.99315	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.93	5.93	0.95920	.	0.055012	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.5647	19.2927	0.94108	0.0:1.0:0.0:0.0	.	.	.	.	X	945;789;787	.	ENSP00000369397:S787X	S	+	2	0	NHS	17655044	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.818000	0.86416	2.509000	0.84616	0.538000	0.68166	TCA	NHS	-	NULL		0.438	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17745123	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	nonsense	SNP	1.000	G
NLRP8	126205	genome.wustl.edu	37	19	56459460	56459460	+	Silent	SNP	C	C	T	rs139646181		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:56459460C>T	ENST00000291971.3	+	1	263	c.192C>T	c.(190-192)ctC>ctT	p.L64L	NLRP8_ENST00000590542.1_Silent_p.L64L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	64	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGACTGAGCTCAGTACTGGCA	0.562																																																	0								C		0,4406		0,0,2203	109.0	86.0	94.0		192	1.2	0.0	19	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP8	NM_176811.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		64/1049	56459460	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.192C>T	19.37:g.56459460C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7RTR4	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L64	ENST00000291971.3	37	c.192	CCDS12937.1	19																																																																																			NLRP8	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN		0.562	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	C	NM_176811		56459460	+1	no_errors	ENST00000291971	ensembl	human	known	70_37	silent	SNP	0.002	T
NOTCH4	4855	genome.wustl.edu	37	6	32163297	32163297	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:32163297C>G	ENST00000375023.3	-	30	6067	c.5929G>C	c.(5929-5931)Gag>Cag	p.E1977Q	GPSM3_ENST00000375040.3_5'Flank|GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375043.3_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1977					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.E1977Q(2)|p.E1977K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GATCCCCGCTCCGGGGACGGA	0.567																																																	3	Substitution - Missense(3)	breast(3)											92.0	107.0	102.0					6																	32163297		1509	2708	4217	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5929G>C	6.37:g.32163297C>G	ENSP00000364163:p.Glu1977Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.E1977Q	ENST00000375023.3	37	c.5929	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066583	0.55539	.	.	ENSG00000204301	ENST00000375023	D	0.82619	-1.63	4.92	4.92	0.64577	.	0.000000	0.44483	D	0.000449	T	0.80380	0.4612	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.994;0.997	P;P	0.61397	0.81;0.888	D	0.83471	0.0059	10	0.87932	D	0	.	13.8008	0.63199	0.0:1.0:0.0:0.0	.	1977;1976	Q99466;B0S882	NOTC4_HUMAN;.	Q	1977	ENSP00000364163:E1977Q	ENSP00000364163:E1977Q	E	-	1	0	NOTCH4	32271275	0.726000	0.28059	0.225000	0.23894	0.099000	0.18886	2.169000	0.42434	2.714000	0.92807	0.650000	0.86243	GAG	NOTCH4	-	pirsf_Notch		0.567	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	C			32163297	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	missense	SNP	0.449	G
NPRL3	8131	genome.wustl.edu	37	16	167375	167375	+	Splice_Site	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:167375C>T	ENST00000405960.3	-	5	604		c.e5-1		NPRL3_ENST00000399951.3_Intron|NPRL3_ENST00000399953.3_Splice_Site			Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)						aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						TTTTGGAGATCTGTAAAAGAT	0.388																																																	0													55.0	52.0	53.0					16																	167375		1845	4081	5926	SO:0001630	splice_region_variant	8131				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000405960.3:c.2277-1G>A	16.37:g.167375C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU40|Q1W6H0|Q4TT56|Q92469	Splice_Site	SNP	-	e4-1	ENST00000405960.3	37	c.319-1		16	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543259	0.65198	.	.	ENSG00000103148	ENST00000399953;ENST00000419636	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4759	0.90792	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPRL3	107375	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.689000	0.84165	2.673000	0.90976	0.655000	0.94253	.	NPRL3	-	-		0.388	NPRL3-015	KNOWN	basic	processed_transcript	NPRL3	HGNC	protein_coding	OTTHUMT00000467385.1	C	NM_001039476	Intron	167375	-1	no_errors	ENST00000399953	ensembl	human	known	70_37	splice_site	SNP	1.000	T
NRXN2	9379	genome.wustl.edu	37	11	64436066	64436066	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:64436066G>A	ENST00000377551.1	-	7	1419	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L	NRXN2_ENST00000265459.6_Missense_Mutation_p.S403L|NRXN2_ENST00000377559.3_Missense_Mutation_p.S372L|NRXN2_ENST00000409571.1_Missense_Mutation_p.S396L			Q9P2S2	NRX2A_HUMAN	neurexin 2	403	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCGTCCACCGAGATGGTCAC	0.572																																																	0													112.0	101.0	105.0					11																	64436066		2201	4297	6498	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1208C>T	11.37:g.64436066G>A	ENSP00000366774:p.Ser403Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.S403L	ENST00000377551.1	37	c.1208	CCDS8077.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.035516|3.035516	0.54896|0.54896	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000417749|ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300	.|T;T;T;T;T	.|0.78595	.|-1.19;-1.19;-1.19;-1.19;-1.19	4.91|4.91	4.91|4.91	0.64330|0.64330	.|Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.|0.000000	.|0.39544	.|U	.|0.001333	T|T	0.72078|0.72078	0.3416|0.3416	L|L	0.53617|0.53617	1.68|1.68	0.42010|0.42010	D|D	0.990931|0.990931	.|P;P;P	.|0.44139	.|0.699;0.827;0.716	.|B;B;B	.|0.36335	.|0.053;0.222;0.098	T|T	0.77816|0.77816	-0.2447|-0.2447	5|10	.|0.59425	.|D	.|0.04	.|.	15.6315|15.6315	0.76912|0.76912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|372;403;149	.|Q9P2S2-2;Q9P2S2;E7EV67	.|.;NRX2A_HUMAN;.	W|L	149|403;372;403;372;396;159	.|ENSP00000366774:S403L;ENSP00000366782:S372L;ENSP00000265459:S403L;ENSP00000386416:S396L;ENSP00000388971:S159L	.|ENSP00000265459:S403L	R|S	-|-	1|2	2|0	NRXN2|NRXN2	64192642|64192642	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.945000|0.945000	0.59286|0.59286	5.223000|5.223000	0.65283|0.65283	2.531000|2.531000	0.85337|0.85337	0.650000|0.650000	0.86243|0.86243	CGG|TCG	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.572	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	G	NM_015080		64436066	-1	no_errors	ENST00000265459	ensembl	human	known	70_37	missense	SNP	0.990	A
NTPCR	84284	genome.wustl.edu	37	1	233112143	233112143	+	Intron	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:233112143C>A	ENST00000366628.5	+	5	591				NTPCR_ENST00000366627.4_Missense_Mutation_p.S187Y|NTPCR_ENST00000490098.1_Intron	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(1)|ovary(1)	4						GTATCACAGTCCACTCTCACA	0.488																																																	0																																										SO:0001627	intron_variant	84284			BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"""human cancer-related NTPase"""		"""chromosome 1 open reading frame 57"""	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.505-1766C>A	1.37:g.233112143C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Nuc-triphosphatase_THEP1,smart_AAA+_ATPase	p.S187Y	ENST00000366628.5	37	c.560	CCDS1597.1	1	.	.	.	.	.	.	.	.	.	.	C	6.093	0.385441	0.11524	.	.	ENSG00000135778	ENST00000366627	T	0.53423	0.62	0.996	-1.99	0.07457	.	.	.	.	.	T	0.28134	0.0694	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15009	-1.0452	8	0.30854	T	0.27	.	4.7833	0.13213	0.5637:0.4362:0.0:0.0	.	187	Q5TDF0	.	Y	187	ENSP00000355586:S187Y	ENSP00000355586:S187Y	S	+	2	0	NTPCR	231178766	0.000000	0.05858	0.002000	0.10522	0.115000	0.19883	-1.060000	0.03475	-0.804000	0.04410	0.305000	0.20034	TCC	NTPCR	-	NULL		0.488	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTPCR	HGNC	protein_coding	OTTHUMT00000092324.2	C	NM_032324		233112143	+1	no_errors	ENST00000366627	ensembl	human	known	70_37	missense	SNP	0.003	A
OR10H2	26538	genome.wustl.edu	37	19	15839584	15839584	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:15839584C>G	ENST00000305899.3	+	1	751	c.731C>G	c.(730-732)tCt>tGt	p.S244C		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					ACCTGTGCCTCTCACCTTATT	0.537																																																	0													234.0	168.0	191.0					19																	15839584		2203	4300	6503	SO:0001583	missense	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.731C>G	19.37:g.15839584C>G	ENSP00000306095:p.Ser244Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFQ1|Q96R58	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S244C	ENST00000305899.3	37	c.731	CCDS12333.1	19	.	.	.	.	.	.	.	.	.	.	.	12.80	2.046391	0.36085	.	.	ENSG00000171942	ENST00000305899	T	0.39787	1.06	3.39	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.146062	0.31963	N	0.006790	T	0.70570	0.3239	M	0.94021	3.485	0.39754	D	0.97193	D	0.89917	1.0	D	0.80764	0.994	T	0.79928	-0.1596	10	0.87932	D	0	.	12.3273	0.55018	0.0:1.0:0.0:0.0	.	244	O60403	O10H2_HUMAN	C	244	ENSP00000306095:S244C	ENSP00000306095:S244C	S	+	2	0	OR10H2	15700584	0.765000	0.28485	0.075000	0.20258	0.057000	0.15508	6.894000	0.75655	1.441000	0.47550	0.531000	0.56144	TCT	OR10H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.537	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H2	HGNC	protein_coding	OTTHUMT00000460917.1	C			15839584	+1	no_errors	ENST00000305899	ensembl	human	known	70_37	missense	SNP	0.968	G
OR10X1	128367	genome.wustl.edu	37	1	158548787	158548787	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:158548787G>C	ENST00000368150.1	-	1	902	c.903C>G	c.(901-903)atC>atG	p.I301M		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I301I(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGCTGAATATGATGGGGCTGA	0.408																																																	2	Substitution - coding silent(2)	lung(2)											106.0	112.0	110.0					1																	158548787		2203	4300	6503	SO:0001583	missense	128367			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.903C>G	1.37:g.158548787G>C	ENSP00000357132:p.Ile301Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFR8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I301M	ENST00000368150.1	37	c.903	CCDS30900.1	1	.	.	.	.	.	.	.	.	.	.	G	4.332	0.061017	0.08339	.	.	ENSG00000186400	ENST00000368150	T	0.47528	0.84	4.5	-0.116	0.13555	.	0.630965	0.14024	N	0.346636	T	0.08935	0.0221	N	0.26130	0.795	0.22926	N	0.998559	P	0.39282	0.666	B	0.31245	0.126	T	0.22591	-1.0212	10	0.15066	T	0.55	.	5.2258	0.15393	0.0811:0.3959:0.3881:0.1349	.	301	Q8NGY0	O10X1_HUMAN	M	301	ENSP00000357132:I301M	ENSP00000357132:I301M	I	-	3	3	OR10X1	156815411	0.813000	0.29090	0.991000	0.47740	0.846000	0.48090	-0.169000	0.09911	0.180000	0.19960	-0.302000	0.09304	ATC	OR10X1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.408	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	G	NM_001004477		158548787	-1	no_errors	ENST00000368150	ensembl	human	known	70_37	missense	SNP	0.540	C
OR4K17	390436	genome.wustl.edu	37	14	20586347	20586347	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:20586347C>T	ENST00000315543.4	+	1	782	c.782C>T	c.(781-783)cCt>cTt	p.P261L		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AACCACTCTCCTACTGGGCAA	0.448																																																	0													145.0	138.0	141.0					14																	20586347		2203	4300	6503	SO:0001583	missense	390436				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.782C>T	14.37:g.20586347C>T	ENSP00000319197:p.Pro261Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF12	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P261L	ENST00000315543.4	37	c.782	CCDS32030.1	14	.	.	.	.	.	.	.	.	.	.	.	3.992	-0.004261	0.07773	.	.	ENSG00000176230	ENST00000315543	T	0.00039	8.85	2.86	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.250293	0.20600	U	0.089168	T	0.00073	0.0002	N	0.04669	-0.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14868	-1.0457	10	0.40728	T	0.16	.	5.5779	0.17233	0.2224:0.5602:0.2174:0.0	.	233	Q8NGC6	OR4KH_HUMAN	L	261	ENSP00000319197:P261L	ENSP00000319197:P261L	P	+	2	0	OR4K17	19656187	0.000000	0.05858	0.886000	0.34754	0.134000	0.20937	0.168000	0.16622	1.579000	0.49836	0.404000	0.27445	CCT	OR4K17	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.448	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K17	HGNC	protein_coding	OTTHUMT00000410346.1	C			20586347	+1	no_errors	ENST00000315543	ensembl	human	known	70_37	missense	SNP	0.012	T
OTOF	9381	genome.wustl.edu	37	2	26690260	26690260	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:26690260C>T	ENST00000272371.2	-	34	4326	c.4200G>A	c.(4198-4200)aaG>aaA	p.K1400K	OTOF_ENST00000339598.3_Silent_p.K633K|OTOF_ENST00000403946.3_Silent_p.K1400K|OTOF_ENST00000338581.6_Silent_p.K633K|OTOF_ENST00000402415.3_Silent_p.K710K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1400					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGTTTCTTCTTCTCGGGGG	0.582																																					GBM(102;732 1451 20652 24062 31372)												0													60.0	62.0	61.0					2																	26690260		2203	4300	6503	SO:0001819	synonymous_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4200G>A	2.37:g.26690260C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.K1400	ENST00000272371.2	37	c.4200	CCDS1725.1	2																																																																																			OTOF	-	NULL		0.582	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	C			26690260	-1	no_errors	ENST00000272371	ensembl	human	known	70_37	silent	SNP	1.000	T
OTOG	340990	genome.wustl.edu	37	11	17655674	17655674	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:17655674C>T	ENST00000399391.2	+	43	7362	c.7362C>T	c.(7360-7362)ctC>ctT	p.L2454L	OTOG_ENST00000342528.2_Intron|OTOG_ENST00000399397.1_Silent_p.L2381L	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	2454					adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						ACAGCTCCCTCAGCGGCTGCT	0.682																																																	0																																										SO:0001819	synonymous_variant	340990			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.7362C>T	11.37:g.17655674C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTX6|A8MUJ0|B7WPC4	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.L2454	ENST00000399391.2	37	c.7362	CCDS59225.1	11																																																																																			OTOG	-	NULL		0.682	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		C			17655674	+1	no_errors	ENST00000399391	ensembl	human	known	70_37	silent	SNP	0.934	T
P2RY8	286530	genome.wustl.edu	37	X	1585319	1585319	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:1585319G>C	ENST00000381297.4	-	2	343	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCACCCACAGAGAGAAGAGG	0.662			T	CRLF2	"""B-ALL, Downs associated ALL"""																																			Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	"""purinergic receptor P2Y, G-protein coupled, 8"""		L	0													50.0	51.0	50.0					X																	1585319		2203	4296	6499	SO:0001583	missense	286530			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.133C>G	X.37:g.1585319G>C	ENSP00000370697:p.Leu45Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt	p.L45V	ENST00000381297.4	37	c.133	CCDS14115.1	X	.	.	.	.	.	.	.	.	.	.	g	8.378	0.836827	0.16891	.	.	ENSG00000182162	ENST00000381297	T	0.72835	-0.69	2.1	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.098253	0.42420	U	0.000711	T	0.80513	0.4637	M	0.70903	2.155	0.09310	N	0.999992	D	0.76494	0.999	D	0.68943	0.961	T	0.72381	-0.4311	10	0.72032	D	0.01	.	12.2776	0.54744	0.0:0.0:1.0:0.0	.	45	Q86VZ1	P2RY8_HUMAN	V	45	ENSP00000370697:L45V	ENSP00000370697:L45V	L	-	1	2	P2RY8	1545319	0.998000	0.40836	0.324000	0.25361	0.020000	0.10135	2.342000	0.43992	0.637000	0.30526	0.279000	0.19357	CTG	P2RY8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.662	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY8	HGNC	protein_coding	OTTHUMT00000055602.1	G	NM_178129		1585319	-1	no_errors	ENST00000381297	ensembl	human	known	70_37	missense	SNP	0.998	C
PANK1	53354	genome.wustl.edu	37	10	91359024	91359024	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:91359024C>G	ENST00000307534.4	-	3	1450	c.1295G>C	c.(1294-1296)aGa>aCa	p.R432T	PANK1_ENST00000371774.2_Missense_Mutation_p.R234T|PANK1_ENST00000342512.3_Missense_Mutation_p.R207T|PANK1_ENST00000322191.6_Missense_Mutation_p.R207T	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	432					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						CCCTGTAACTCTTTTATAGTT	0.408																																																	0													148.0	136.0	140.0					10																	91359024		2203	4300	6503	SO:0001583	missense	53354			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1295G>C	10.37:g.91359024C>G	ENSP00000302108:p.Arg432Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.R432T	ENST00000307534.4	37	c.1295	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	C	30	5.052879	0.93793	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.95328	3.655	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.992;0.999;0.982;0.988	D	0.97070	0.9777	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	234;432;207;207	Q8TE04-4;Q8TE04;Q8TE04-3;Q8TE04-2	.;PANK1_HUMAN;.;.	T	207;207;234;432;295	ENSP00000345118:R207T;ENSP00000318526:R207T;ENSP00000360839:R234T;ENSP00000302108:R432T	ENSP00000302108:R432T	R	-	2	0	PANK1	91349004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	AGA	PANK1	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK		0.408	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	HGNC	protein_coding		C			91359024	-1	no_errors	ENST00000307534	ensembl	human	known	70_37	missense	SNP	1.000	G
PANX2	56666	genome.wustl.edu	37	22	50615963	50615963	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:50615963G>A	ENST00000395842.2	+	2	822	c.822G>A	c.(820-822)gcG>gcA	p.A274A	PANX2_ENST00000159647.5_Silent_p.A274A	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	274					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGGGGCCCGCGGTGCGCGTGA	0.667																																																	0													36.0	29.0	31.0					22																	50615963		2188	4297	6485	SO:0001819	synonymous_variant	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.822G>A	22.37:g.50615963G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z684|Q96RD5|Q9UGX8	Silent	SNP	pfam_Innexin,pfscan_Innexin	p.A274	ENST00000395842.2	37	c.822	CCDS14085.2	22																																																																																			PANX2	-	pfscan_Innexin		0.667	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX2	HGNC	protein_coding	OTTHUMT00000075010.3	G	NM_052839		50615963	+1	no_errors	ENST00000395842	ensembl	human	known	70_37	silent	SNP	0.358	A
PARD3	56288	genome.wustl.edu	37	10	34558760	34558760	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:34558760C>G	ENST00000374789.3	-	22	3578	c.3253G>C	c.(3253-3255)Gat>Cat	p.D1085H	PARD3_ENST00000545693.1_Missense_Mutation_p.D1069H|PARD3_ENST00000374788.3_Missense_Mutation_p.D1082H|PARD3_ENST00000374794.3_Missense_Mutation_p.D973H|PARD3_ENST00000545260.1_Missense_Mutation_p.D995H|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374790.3_Missense_Mutation_p.D1025H|PARD3_ENST00000346874.4_Missense_Mutation_p.D1048H|PARD3_ENST00000350537.4_Missense_Mutation_p.D1039H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1085					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CGATGAAAATCTTGAATTTCA	0.423																																																	0													95.0	90.0	92.0					10																	34558760		2203	4300	6503	SO:0001583	missense	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3253G>C	10.37:g.34558760C>G	ENSP00000363921:p.Asp1085His	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1085H	ENST00000374789.3	37	c.3253	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092103	0.76756	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;2.1;2.12;1.57;1.57	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.999;0.999;0.999;0.999;0.999	T	0.51340	-0.8718	10	0.72032	D	0.01	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	973;995;1002;1039;1069;1048;1082;1085	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	H	1069;995;1085;1082;1048;973;1039;1025	ENSP00000443147:D1069H;ENSP00000440857:D995H;ENSP00000363921:D1085H;ENSP00000363920:D1082H;ENSP00000340591:D1048H;ENSP00000363926:D973H;ENSP00000311986:D1039H;ENSP00000363922:D1025H	ENSP00000340591:D1048H	D	-	1	0	PARD3	34598766	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.892000	0.69790	2.894000	0.99253	0.591000	0.81541	GAT	PARD3	-	NULL		0.423	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	C	NM_019619		34558760	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	missense	SNP	1.000	G
PCDH9	5101	genome.wustl.edu	37	13	67800591	67800591	+	Missense_Mutation	SNP	A	A	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:67800591A>C	ENST00000377865.2	-	1	2116	c.1982T>G	c.(1981-1983)gTa>gGa	p.V661G	PCDH9_ENST00000377861.3_Missense_Mutation_p.V661G|PCDH9_ENST00000456367.1_Missense_Mutation_p.V661G|PCDH9_ENST00000328454.5_Missense_Mutation_p.V661G|PCDH9_ENST00000544246.1_Missense_Mutation_p.V661G			Q9HC56	PCDH9_HUMAN	protocadherin 9	661	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTTGATAGTTACTTTTGCAGT	0.453																																																	0													110.0	95.0	100.0					13																	67800591		2203	4300	6503	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1982T>G	13.37:g.67800591A>C	ENSP00000367096:p.Val661Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V661G	ENST00000377865.2	37	c.1982	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430893	0.83776	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.4	5.4	0.78164	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	H	0.97540	4.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.994;0.994;0.998	D	0.90058	0.4154	10	0.87932	D	0	.	15.5974	0.76595	1.0:0.0:0.0:0.0	.	661;661;661;661	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	G	661	ENSP00000442186:V661G;ENSP00000367096:V661G;ENSP00000401699:V661G;ENSP00000332060:V661G;ENSP00000367092:V661G	ENSP00000332060:V661G	V	-	2	0	PCDH9	66698592	1.000000	0.71417	0.940000	0.37924	0.934000	0.57294	9.139000	0.94554	2.271000	0.75665	0.533000	0.62120	GTA	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.453	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	A	NM_203487		67800591	-1	no_errors	ENST00000377865	ensembl	human	known	70_37	missense	SNP	0.999	C
PCDHA7	56141	genome.wustl.edu	37	5	140214179	140214179	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:140214179C>T	ENST00000525929.1	+	1	211	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C	PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71C|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCAAATTCCGTGGGGATCT	0.617																																					NSCLC(160;258 2013 5070 22440 28951)												0													99.0	118.0	112.0					5																	140214179		2203	4300	6503	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.211C>T	5.37:g.140214179C>T	ENSP00000436426:p.Arg71Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R71C	ENST00000525929.1	37	c.211	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964536	0.34659	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.30182	1.54;1.54	4.17	2.27	0.28462	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.270973	0.18904	U	0.127960	T	0.58119	0.2100	M	0.92077	3.27	0.09310	N	1	D;D	0.76494	0.998;0.999	P;D	0.63381	0.86;0.914	T	0.53940	-0.8367	10	0.87932	D	0	.	9.8143	0.40842	0.1475:0.5669:0.2856:0.0	.	71;71	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	C	71	ENSP00000436426:R71C;ENSP00000367365:R71C	ENSP00000367365:R71C	R	+	1	0	PCDHA7	140194363	0.000000	0.05858	0.206000	0.23566	0.342000	0.28953	-0.884000	0.04166	0.290000	0.22444	0.449000	0.29647	CGT	PCDHA7	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	C	NM_018910		140214179	+1	no_errors	ENST00000525929	ensembl	human	known	70_37	missense	SNP	0.012	T
PCDHAC2	56134	genome.wustl.edu	37	5	140347477	140347477	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:140347477G>C	ENST00000289269.5	+	1	1658	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	376	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGTGCCTGAGAATGCTAC	0.582																																					Melanoma(190;638 2083 3390 11909 52360)												0													92.0	78.0	82.0					5																	140347477		2203	4300	6503	SO:0001583	missense	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1126G>C	5.37:g.140347477G>C	ENSP00000289269:p.Glu376Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E376Q	ENST00000289269.5	37	c.1126	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	G	19.85	3.902977	0.72754	.	.	ENSG00000243232	ENST00000289269	T	0.75938	-0.98	5.87	5.87	0.94306	Cadherin (3);Cadherin-like (1);	0.000000	0.42548	D	0.000695	D	0.92202	0.7527	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94342	0.7571	10	0.87932	D	0	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	376;376	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	Q	376	ENSP00000289269:E376Q	ENSP00000289269:E376Q	E	+	1	0	PCDHAC2	140327661	1.000000	0.71417	0.978000	0.43139	0.892000	0.51952	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	GAG	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.582	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	G	NM_018899		140347477	+1	no_errors	ENST00000289269	ensembl	human	known	70_37	missense	SNP	1.000	C
PCDHB5	26167	genome.wustl.edu	37	5	140517297	140517297	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:140517297G>A	ENST00000231134.5	+	1	2498	c.2281G>A	c.(2281-2283)Ggc>Agc	p.G761S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	761					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G761S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGGGGCCGGCGAGTTCAA	0.572																																																	1	Substitution - Missense(1)	central_nervous_system(1)											107.0	130.0	122.0					5																	140517297		2200	4300	6500	SO:0001583	missense	26167			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2281G>A	5.37:g.140517297G>A	ENSP00000231134:p.Gly761Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q549F4|Q9UFU9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G761S	ENST00000231134.5	37	c.2281	CCDS4247.1	5	.	.	.	.	.	.	.	.	.	.	G	1.947	-0.442129	0.04604	.	.	ENSG00000113209	ENST00000231134	T	0.44482	0.92	4.62	-2.55	0.06288	.	.	.	.	.	T	0.13756	0.0333	N	0.01454	-0.855	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.34279	-0.9835	9	0.02654	T	1	.	12.6536	0.56776	0.9004:0.0:0.0996:0.0	.	761	Q9Y5E4	PCDB5_HUMAN	S	761	ENSP00000231134:G761S	ENSP00000231134:G761S	G	+	1	0	PCDHB5	140497481	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	1.206000	0.32321	-0.659000	0.05359	-1.216000	0.01612	GGC	PCDHB5	-	NULL		0.572	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	HGNC	protein_coding	OTTHUMT00000251811.1	G	NM_015669		140517297	+1	no_errors	ENST00000231134	ensembl	human	known	70_37	missense	SNP	0.002	A
PDHA2	5161	genome.wustl.edu	37	4	96761857	96761857	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:96761857G>C	ENST00000295266.4	+	1	619	c.556G>C	c.(556-558)Gag>Cag	p.E186Q		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	186					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AGGAAACGATGAGATCTGTTT	0.478																																																	0													62.0	67.0	65.0					4																	96761857		2203	4300	6503	SO:0001583	missense	5161				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.556G>C	4.37:g.96761857G>C	ENSP00000295266:p.Glu186Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.E186Q	ENST00000295266.4	37	c.556	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	G	5.194	0.221313	0.09863	.	.	ENSG00000163114	ENST00000295266	D	0.95949	-3.86	4.77	2.04	0.26737	Dehydrogenase, E1 component (1);	0.108661	0.64402	N	0.000008	D	0.88869	0.6554	N	0.21617	0.685	0.22842	N	0.998665	B	0.18310	0.027	B	0.20577	0.03	T	0.78319	-0.2250	10	0.34782	T	0.22	-23.425	6.3823	0.21542	0.176:0.1573:0.6667:0.0	.	186	P29803	ODPAT_HUMAN	Q	186	ENSP00000295266:E186Q	ENSP00000295266:E186Q	E	+	1	0	PDHA2	96980880	0.990000	0.36364	0.001000	0.08648	0.196000	0.23810	2.035000	0.41155	0.304000	0.22809	0.467000	0.42956	GAG	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.478	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	G			96761857	+1	no_errors	ENST00000295266	ensembl	human	known	70_37	missense	SNP	0.182	C
PEX11A	8800	genome.wustl.edu	37	15	90233900	90233900	+	5'UTR	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:90233900C>G	ENST00000300056.3	-	0	113				PEX11A_ENST00000561224.1_5'UTR|WDR93_ENST00000558000.1_5'Flank|PEX11A_ENST00000561257.1_5'Flank|PEX11A_ENST00000557982.1_5'UTR|WDR93_ENST00000560294.1_5'Flank|PEX11A_ENST00000559170.1_5'UTR|WDR93_ENST00000268130.7_5'Flank	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha						brown fat cell differentiation (GO:0050873)|cellular lipid metabolic process (GO:0044255)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GCACGGGGCTCAGGCGTGGGT	0.677																																																	0													21.0	21.0	21.0					15																	90233900		1841	3406	5247	SO:0001623	5_prime_UTR_variant	8800			AF093668	CCDS10354.1, CCDS61751.1	15q	2008-08-26	2008-08-26		ENSG00000166821	ENSG00000166821			8852	protein-coding gene	gene with protein product		603866	"""peroxisomal biogenesis factor 11A"""			9792670	Standard	NM_003847		Approved	PEX11-ALPHA, MGC119947, MGC138534	uc002boi.4	O75192	OTTHUMG00000149809	ENST00000300056.3:c.-37G>C	15.37:g.90233900C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DV88	RNA	SNP	-	NULL	ENST00000300056.3	37	NULL	CCDS10354.1	15																																																																																			PEX11A	-	-		0.677	PEX11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX11A	HGNC	protein_coding	OTTHUMT00000313420.1	C	NM_003847		90233900	-1	no_errors	ENST00000557982	ensembl	human	known	70_37	rna	SNP	0.002	G
PIBF1	10464	genome.wustl.edu	37	13	73357704	73357704	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:73357704G>A	ENST00000326291.6	+	2	435	c.97G>A	c.(97-99)Gat>Aat	p.D33N	DIS3_ENST00000545453.1_5'Flank|DIS3_ENST00000377767.4_5'Flank|DIS3_ENST00000377780.4_5'Flank|DIS3_ENST00000475871.1_5'Flank	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	33						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TCCTACGGATGATATTTCCTC	0.343																																																	0													82.0	86.0	85.0					13																	73357704		2203	4300	6503	SO:0001583	missense	10464			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.97G>A	13.37:g.73357704G>A	ENSP00000317144:p.Asp33Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	superfamily_t-SNARE	p.D33N	ENST00000326291.6	37	c.97	CCDS31991.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.444844	0.96187	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.06528	3.29	5.55	5.55	0.83447	.	0.087752	0.85682	D	0.000000	T	0.19287	0.0463	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.63046	0.992;0.985	P;P	0.57101	0.813;0.747	T	0.00294	-1.1840	10	0.33141	T	0.24	-24.662	19.5053	0.95113	0.0:0.0:1.0:0.0	.	33;33	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	N	33	ENSP00000317144:D33N	ENSP00000317144:D33N	D	+	1	0	PIBF1	72255705	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.192000	0.94947	2.616000	0.88540	0.585000	0.79938	GAT	PIBF1	-	NULL		0.343	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	G	NM_006346		73357704	+1	no_errors	ENST00000326291	ensembl	human	known	70_37	missense	SNP	1.000	A
PIGC	5279	genome.wustl.edu	37	1	172413191	172413191	+	5'UTR	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:172413191G>A	ENST00000367728.1	-	0	35				C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_5'UTR|PIGC_ENST00000484368.1_5'UTR|PIGC_ENST00000344529.4_5'UTR			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CCGCTTCGGGGCGCCGGGGCT	0.672											OREG0013986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001623	5_prime_UTR_variant	5279			BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.-1429C>T	1.37:g.172413191G>A		Somatic	1900	WXS	Illumina HiSeq	Phase_IV	O14491	RNA	SNP	-	NULL	ENST00000367728.1	37	NULL	CCDS1302.1	1																																																																																			PIGC	-	-		0.672	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGC	HGNC	protein_coding	OTTHUMT00000084068.1	G	NM_153747		172413191	-1	no_errors	ENST00000484368	ensembl	human	known	70_37	rna	SNP	0.965	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIWIL1	9271	genome.wustl.edu	37	12	130842072	130842072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:130842072C>T	ENST00000245255.3	+	14	1911	c.1639C>T	c.(1639-1641)Caa>Taa	p.Q547*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	547	RNA-binding. {ECO:0000250}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGTCTTACAGCAAAAGGTCAC	0.418																																																	0													148.0	130.0	136.0					12																	130842072		2203	4300	6503	SO:0001587	stop_gained	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1639C>T	12.37:g.130842072C>T	ENSP00000245255:p.Gln547*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q547*	ENST00000245255.3	37	c.1639	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	C	41	9.125013	0.99073	.	.	ENSG00000125207	ENST00000245255	.	.	.	5.59	4.69	0.59074	.	0.104262	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3018	15.633	0.76926	0.0:0.8624:0.1376:0.0	.	.	.	.	X	547	.	ENSP00000245255:Q547X	Q	+	1	0	PIWIL1	129408025	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	3.630000	0.54273	1.336000	0.45506	0.655000	0.94253	CAA	PIWIL1	-	superfamily_RNaseH-like_dom		0.418	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	C			130842072	+1	no_errors	ENST00000245255	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PKHD1L1	93035	genome.wustl.edu	37	8	110478940	110478940	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:110478940C>T	ENST00000378402.5	+	50	8651	c.8547C>T	c.(8545-8547)ttC>ttT	p.F2849F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2849					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTTAGCGTTCAACCAGCCTT	0.408										HNSCC(38;0.096)																																							0													143.0	133.0	136.0					8																	110478940		1943	4149	6092	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8547C>T	8.37:g.110478940C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q567P2|Q9UF27	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.F2849	ENST00000378402.5	37	c.8547	CCDS47911.1	8																																																																																			PKHD1L1	-	NULL		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	C	NM_177531		110478940	+1	no_errors	ENST00000378402	ensembl	human	known	70_37	silent	SNP	1.000	T
PKP4	8502	genome.wustl.edu	37	2	159477761	159477761	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:159477761G>A	ENST00000389759.3	+	6	543	c.431G>A	c.(430-432)aGa>aAa	p.R144K	PKP4_ENST00000389757.3_Missense_Mutation_p.R144K	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	144					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GGTAACTCAAGAAGTTCAACA	0.393										HNSCC(62;0.18)																																							0													95.0	91.0	93.0					2																	159477761		2203	4300	6503	SO:0001583	missense	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.431G>A	2.37:g.159477761G>A	ENSP00000374409:p.Arg144Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R144K	ENST00000389759.3	37	c.431	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.931942	0.73442	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.73575	-0.75;-0.76	5.91	5.91	0.95273	.	0.389348	0.28062	N	0.016745	T	0.70684	0.3252	L	0.40543	1.245	0.49582	D	0.999805	P;P	0.39665	0.629;0.682	B;B	0.38296	0.27;0.2	T	0.71797	-0.4484	10	0.52906	T	0.07	-13.0474	20.2936	0.98544	0.0:0.0:1.0:0.0	.	144;144	Q99569-2;Q99569	.;PKP4_HUMAN	K	144	ENSP00000374407:R144K;ENSP00000374409:R144K	ENSP00000374407:R144K	R	+	2	0	PKP4	159186007	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.780000	0.68956	2.801000	0.96364	0.655000	0.94253	AGA	PKP4	-	NULL		0.393	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	G			159477761	+1	no_errors	ENST00000389759	ensembl	human	known	70_37	missense	SNP	1.000	A
PLEKHM2	23207	genome.wustl.edu	37	1	16054080	16054080	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:16054080G>A	ENST00000375799.3	+	9	1740	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.E485K|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	505					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCAAGAAGAAGAGGGAGGAGG	0.642																																																	0													23.0	29.0	27.0					1																	16054080		2016	4154	6170	SO:0001583	missense	23207			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1513G>A	1.37:g.16054080G>A	ENSP00000364956:p.Glu505Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.E505K	ENST00000375799.3	37	c.1513	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173430	0.57584	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.47869	0.83;0.83	5.45	4.54	0.55810	.	0.652197	0.15104	N	0.280356	T	0.28067	0.0692	N	0.08118	0	0.41455	D	0.988008	B	0.19817	0.039	B	0.16722	0.016	T	0.06481	-1.0824	10	0.23891	T	0.37	-0.0914	12.1279	0.53926	0.0792:0.0:0.9208:0.0	.	505	Q8IWE5	PKHM2_HUMAN	K	505;485	ENSP00000364956:E505K;ENSP00000364950:E485K	ENSP00000364950:E485K	E	+	1	0	PLEKHM2	15926667	1.000000	0.71417	0.411000	0.26484	0.994000	0.84299	7.420000	0.80191	1.296000	0.44742	0.655000	0.94253	GAG	PLEKHM2	-	NULL		0.642	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	G	NM_015164		16054080	+1	no_errors	ENST00000375799	ensembl	human	known	70_37	missense	SNP	0.998	A
PLXNB1	5364	genome.wustl.edu	37	3	48463769	48463769	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:48463769C>T	ENST00000358536.4	-	5	1659	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	PLXNB1_ENST00000358459.4_Missense_Mutation_p.E464K|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E464K|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E464K	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	464	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TACAGGTGCTCAAAGGTCCCA	0.612																																																	0													41.0	37.0	38.0					3																	48463769		2203	4300	6503	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1390G>A	3.37:g.48463769C>T	ENSP00000351338:p.Glu464Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E464K	ENST00000358536.4	37	c.1390	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573267	0.45902	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.69	4.82	0.62117	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.182176	0.47455	N	0.000228	T	0.02970	0.0088	N	0.22421	0.69	0.80722	D	1	B;B	0.30914	0.002;0.3	B;B	0.22880	0.002;0.042	T	0.42515	-0.9447	10	0.07644	T	0.81	.	10.0695	0.42324	0.0:0.8482:0.0:0.1518	.	464;464	O43157;O43157-2	PLXB1_HUMAN;.	K	464	ENSP00000296440:E464K;ENSP00000351242:E464K;ENSP00000351338:E464K;ENSP00000414199:E464K	ENSP00000296440:E464K	E	-	1	0	PLXNB1	48438773	0.984000	0.35163	0.957000	0.39632	0.982000	0.71751	2.080000	0.41586	1.433000	0.47394	0.650000	0.86243	GAG	PLXNB1	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.612	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	C	NM_002673		48463769	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	missense	SNP	0.993	T
PDE1B	5153	genome.wustl.edu	37	12	54969542	54969542	+	Intron	SNP	A	A	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:54969542A>G	ENST00000243052.3	+	12	1703				PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000538346.1_Intron|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Intron	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent						activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTACTGTGCTAGAGCATGGGG	0.582																																																	0																																										SO:0001627	intron_variant	5502			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1267+126A>G	12.37:g.54969542A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q92825|Q96KP3	RNA	SNP	-	NULL	ENST00000243052.3	37	NULL	CCDS8882.1	12																																																																																			PPP1R1A	-	-		0.582	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406203.1	A			54969542	-1	no_errors	ENST00000547431	ensembl	human	known	70_37	rna	SNP	0.000	G
POLE	5426	genome.wustl.edu	37	12	133234542	133234542	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:133234542G>T	ENST00000320574.5	-	27	3333	c.3290C>A	c.(3289-3291)gCc>gAc	p.A1097D	POLE_ENST00000535270.1_Missense_Mutation_p.A1070D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1097					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TTGGAAAATGGCAAGTGGGAT	0.473								DNA polymerases (catalytic subunits)																																									0													113.0	99.0	104.0					12																	133234542		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3290C>A	12.37:g.133234542G>T	ENSP00000322570:p.Ala1097Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.A1108D	ENST00000320574.5	37	c.3323	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.184434	0.94885	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000376577	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.86	5.86	0.93980	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.80764	0.994;0.985	T	0.46679	-0.9174	10	0.87932	D	0	.	20.2359	0.98356	0.0:0.0:1.0:0.0	.	1070;1097	F5H1D6;Q07864	.;DPOE1_HUMAN	D	1097;1108;1070;877;74;1032	ENSP00000322570:A1097D;ENSP00000406383:A1108D;ENSP00000445753:A1070D;ENSP00000442519:A877D	ENSP00000322570:A1097D	A	-	2	0	POLE	131744615	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.806000	0.99153	2.787000	0.95880	0.650000	0.86243	GCC	POLE	-	pfam_DNA-dir_DNA_pol_B_multi_dom		0.473	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	G	NM_006231		133234542	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	missense	SNP	1.000	T
PRCP	5547	genome.wustl.edu	37	11	82535964	82535964	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:82535964G>A	ENST00000313010.3	-	9	1669	c.1475C>T	c.(1474-1476)gCg>gTg	p.A492V	PRCP_ENST00000525772.1_5'Flank|PRCP_ENST00000393399.2_Missense_Mutation_p.A513V|PRCP_ENST00000535099.1_Missense_Mutation_p.A387V	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	492					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTGCTTTCCCGCACTGTCATA	0.408																																																	0													61.0	60.0	60.0					11																	82535964		2203	4300	6503	SO:0001583	missense	5547			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1475C>T	11.37:g.82535964G>A	ENSP00000317362:p.Ala492Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	pfam_Peptidase_S28	p.A513V	ENST00000313010.3	37	c.1538	CCDS8262.1	11	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843105	0.32606	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	T;T;T	0.22539	2.53;2.53;1.95	5.25	-10.5	0.00291	.	4.998470	0.00424	N	0.000062	T	0.06781	0.0173	N	0.02916	-0.46	0.09310	N	1	B;B	0.17268	0.021;0.003	B;B	0.11329	0.006;0.001	T	0.17018	-1.0383	9	.	.	.	12.6509	7.2876	0.26348	0.4413:0.0:0.0943:0.4644	.	492;513	P42785;A8MU24	PCP_HUMAN;.	V	492;513;387	ENSP00000317362:A492V;ENSP00000377055:A513V;ENSP00000442077:A387V	.	A	-	2	0	PRCP	82213612	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.555000	0.02170	-1.770000	0.01295	0.467000	0.42956	GCG	PRCP	-	NULL		0.408	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCP	HGNC	protein_coding	OTTHUMT00000391792.1	G	NM_005040		82535964	-1	no_errors	ENST00000393399	ensembl	human	known	70_37	missense	SNP	0.000	A
PRKD1	5587	genome.wustl.edu	37	14	30046497	30046497	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:30046497C>T	ENST00000331968.5	-	18	2915	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K	PRKD1_ENST00000415220.2_Missense_Mutation_p.E904K	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	896					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTTCAGTCTCAGGAGTGTCA	0.488																																																	0													136.0	114.0	122.0					14																	30046497		2203	4300	6503	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2686G>A	14.37:g.30046497C>T	ENSP00000333568:p.Glu896Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E896K	ENST00000331968.5	37	c.2686	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787382	0.31593	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.65364	-0.15;-0.15	6.03	6.03	0.97812	Protein kinase-like domain (1);	0.285598	0.33670	N	0.004665	T	0.52191	0.1719	L	0.43152	1.355	0.34061	D	0.657251	B	0.06786	0.001	B	0.08055	0.003	T	0.55088	-0.8195	10	0.12103	T	0.63	-21.2293	14.129	0.65240	0.0:0.9235:0.0:0.0765	.	896	Q15139	KPCD1_HUMAN	K	896;904	ENSP00000333568:E896K;ENSP00000390535:E904K	ENSP00000333568:E896K	E	-	1	0	PRKD1	29116248	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	2.943000	0.49026	2.861000	0.98227	0.655000	0.94253	GAG	PRKD1	-	superfamily_Kinase-like_dom		0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	C	NM_002742		30046497	-1	no_errors	ENST00000331968	ensembl	human	known	70_37	missense	SNP	0.958	T
PRPF8	10594	genome.wustl.edu	37	17	1558693	1558693	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:1558693C>T	ENST00000572621.1	-	36	6203	c.5938G>A	c.(5938-5940)Gag>Aag	p.E1980K	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Missense_Mutation_p.E1980K			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1980	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGCTGCACCTCGACCTTGATC	0.498																																																	0													207.0	154.0	172.0					17																	1558693		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5938G>A	17.37:g.1558693C>T	ENSP00000460348:p.Glu1980Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.E1980K	ENST00000572621.1	37	c.5938	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	C	37	5.985815	0.97173	.	.	ENSG00000174231	ENST00000304992	D	0.84146	-1.81	5.91	5.91	0.95273	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95350	0.8446	10	0.87932	D	0	-1.1645	19.2845	0.94065	0.0:1.0:0.0:0.0	.	1980	Q6P2Q9	PRP8_HUMAN	K	1980	ENSP00000304350:E1980K	ENSP00000304350:E1980K	E	-	1	0	PRPF8	1505443	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.813000	0.96785	0.655000	0.94253	GAG	PRPF8	-	pfam_PRP8_domainIV		0.498	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	C			1558693	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	missense	SNP	1.000	T
PSMF1	9491	genome.wustl.edu	37	20	1115859	1115859	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:1115859C>T	ENST00000335877.6	+	4	637	c.461C>T	c.(460-462)cCc>cTc	p.P154L	PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000381898.4_Missense_Mutation_p.P66L|PSMF1_ENST00000246015.4_Missense_Mutation_p.P154L|PSMF1_ENST00000333082.3_Missense_Mutation_p.P154L|PSMF1_ENST00000484891.1_3'UTR	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	154	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GTAAGCAGTCCCCACCGGGAG	0.572																																																	0													111.0	98.0	102.0					20																	1115859		2203	4300	6503	SO:0001583	missense	9491			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.461C>T	20.37:g.1115859C>T	ENSP00000338039:p.Pro154Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	pfam_Inhibitor_PI31,pfam_PI31_Prot_Reg	p.P154L	ENST00000335877.6	37	c.461	CCDS13010.1	20	.	.	.	.	.	.	.	.	.	.	C	5.449	0.267977	0.10349	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877	T;T;T;T;T	0.42513	1.51;0.97;1.51;1.51;1.51	5.22	3.3	0.37823	.	0.544065	0.18802	N	0.130758	T	0.23492	0.0568	N	0.12182	0.205	0.37747	D	0.925825	B;B;B;B	0.12630	0.0;0.006;0.0;0.0	B;B;B;B	0.09377	0.0;0.004;0.0;0.0	T	0.07252	-1.0782	10	0.34782	T	0.22	-0.0192	9.1435	0.36919	0.0:0.8299:0.0:0.1701	.	66;66;154;154	F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	L	154;66;154;66;154;154	ENSP00000327704:P154L;ENSP00000371323:P66L;ENSP00000371324:P154L;ENSP00000246015:P154L;ENSP00000338039:P154L	ENSP00000246015:P154L	P	+	2	0	PSMF1	1063859	0.090000	0.21635	0.734000	0.30879	0.020000	0.10135	1.019000	0.30014	0.782000	0.33613	0.650000	0.86243	CCC	PSMF1	-	NULL		0.572	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	HGNC	protein_coding	OTTHUMT00000077504.2	C	NM_178578		1115859	+1	no_errors	ENST00000333082	ensembl	human	known	70_37	missense	SNP	0.771	T
PTBP2	58155	genome.wustl.edu	37	1	97236446	97236446	+	Intron	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:97236446C>T	ENST00000426398.2	+	5	475				PTBP2_ENST00000370198.1_Intron|PTBP2_ENST00000609116.1_Intron|PTBP2_ENST00000541987.1_Intron|PTBP2_ENST00000394184.3_Intron|PTBP2_ENST00000370197.1_Intron|PTBP2_ENST00000482253.1_Intron	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2						mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGGCCTAGAACATATTATGAA	0.294																																																	0													41.0	43.0	42.0					1																	97236446		2202	4293	6495	SO:0001627	intron_variant	58155			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.432+39C>T	1.37:g.97236446C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	RNA	SNP	-	NULL	ENST00000426398.2	37	NULL	CCDS754.1	1																																																																																			PTBP2	-	-		0.294	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1	C			97236446	+1	no_errors	ENST00000460706	ensembl	human	known	70_37	rna	SNP	0.000	T
PTCD2	79810	genome.wustl.edu	37	5	71616231	71616231	+	Missense_Mutation	SNP	G	G	C	rs574908266		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:71616231G>C	ENST00000380639.5	+	1	38	c.22G>C	c.(22-24)Gct>Cct	p.A8P	PTCD2_ENST00000503868.1_Missense_Mutation_p.A8P|MRPS27_ENST00000513900.1_5'Flank|PTCD2_ENST00000543322.1_Missense_Mutation_p.A8P|MRPS27_ENST00000261413.5_5'Flank|MRPS27_ENST00000457646.4_5'Flank|PTCD2_ENST00000536805.1_5'UTR|MRPS27_ENST00000522095.1_5'Flank|MRPS27_ENST00000515404.1_5'Flank	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	8					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CAGTATGGCTGCTGCATTTCG	0.602																																																	0													50.0	58.0	56.0					5																	71616231		2179	4289	6468	SO:0001583	missense	79810			BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.22G>C	5.37:g.71616231G>C	ENSP00000370013:p.Ala8Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	pfam_Ribosomal_S27_mit,tigrfam_Pentatricopeptide_repeat	p.A8P	ENST00000380639.5	37	c.22	CCDS4014.2	5	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732332	0.48939	.	.	ENSG00000049883	ENST00000380639;ENST00000543322;ENST00000503868	.	.	.	5.26	3.46	0.39613	.	0.682625	0.15092	N	0.280994	T	0.38957	0.1060	L	0.29908	0.895	0.24347	N	0.994938	D;D	0.57571	0.98;0.966	P;B	0.58331	0.837;0.446	T	0.11227	-1.0596	9	0.51188	T	0.08	.	7.2714	0.26258	0.1999:0.0:0.8001:0.0	.	8;8	E9PFV7;Q8WV60	.;PTCD2_HUMAN	P	8	.	ENSP00000308948:A8P	A	+	1	0	PTCD2	71651987	0.026000	0.19158	0.270000	0.24601	0.018000	0.09664	0.898000	0.28404	0.778000	0.33520	-0.258000	0.10820	GCT	PTCD2	-	NULL		0.602	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD2	HGNC	protein_coding	OTTHUMT00000218562.6	G	NM_024754		71616231	+1	no_errors	ENST00000308077	ensembl	human	known	70_37	missense	SNP	0.069	C
PTPRN	5798	genome.wustl.edu	37	2	220161732	220161732	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:220161732C>G	ENST00000295718.2	-	15	2451	c.2211G>C	c.(2209-2211)aaG>aaC	p.K737N	PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Missense_Mutation_p.K708N|AC114803.3_ENST00000417355.1_RNA|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.K647N	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	737	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGCCGGTTCTTTTTGATGT	0.642																																																	0													126.0	132.0	130.0					2																	220161732		2203	4300	6503	SO:0001583	missense	5798				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2211G>C	2.37:g.220161732C>G	ENSP00000295718:p.Lys737Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.K737N	ENST00000295718.2	37	c.2211	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376336	0.61735	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.21543	2.0;2.0;2.0	4.31	4.31	0.51392	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.066221	0.64402	D	0.000019	T	0.57272	0.2042	H	0.95982	3.75	0.51233	D	0.999919	D;D	0.89917	0.999;1.0	D;D	0.85130	0.992;0.997	T	0.69558	-0.5113	10	0.87932	D	0	.	11.249	0.49015	0.0:0.9098:0.0:0.0902	.	708;737	Q6NSL1;Q16849	.;PTPRN_HUMAN	N	708;737;708;647	ENSP00000386638:K708N;ENSP00000295718:K737N;ENSP00000444244:K647N	ENSP00000295718:K737N	K	-	3	2	PTPRN	219869976	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.477000	0.53151	2.224000	0.72417	0.462000	0.41574	AAG	PTPRN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.642	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	C			220161732	-1	no_errors	ENST00000295718	ensembl	human	known	70_37	missense	SNP	1.000	G
PUM1	9698	genome.wustl.edu	37	1	31406085	31406085	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:31406085G>C	ENST00000257075.5	-	22	3627	c.3534C>G	c.(3532-3534)atC>atG	p.I1178M	SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000373747.3_Missense_Mutation_p.I1181M|PUM1_ENST00000423018.2_Missense_Mutation_p.I1036M|PUM1_ENST00000424085.2_Missense_Mutation_p.I936M|PUM1_ENST00000373741.4_Missense_Mutation_p.I1216M|PUM1_ENST00000373742.2_Missense_Mutation_p.I1119M|PUM1_ENST00000426105.2_Missense_Mutation_p.I1180M|PUM1_ENST00000440538.2_Missense_Mutation_p.I1154M	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1178					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GGGGGCCACAGATGGGCCCTA	0.547																																																	0													172.0	155.0	161.0					1																	31406085		2203	4300	6503	SO:0001583	missense	9698			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3534C>G	1.37:g.31406085G>C	ENSP00000257075:p.Ile1178Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.I1180M	ENST00000257075.5	37	c.3540	CCDS338.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.200|7.200	0.593351|0.593351	0.13875|0.13875	.|.	.|.	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T|.	0.20069|.	2.13;2.1;2.37;2.36;2.41;2.36;2.42;2.1|.	4.96|4.96	2.92|2.92	0.33932|0.33932	.|.	0.114745|.	0.64402|.	D|.	0.000012|.	T|T	0.59390|0.59390	0.2190|0.2190	L|L	0.61036|0.61036	1.89|1.89	0.45378|0.45378	D|D	0.998364|0.998364	B;B;B;B;B;B;B;B|.	0.26445|.	0.107;0.149;0.003;0.056;0.005;0.003;0.005;0.005|.	B;B;B;B;B;B;B;B|.	0.30251|.	0.027;0.085;0.004;0.113;0.011;0.007;0.011;0.017|.	T|T	0.56768|0.56768	-0.7924|-0.7924	10|5	0.42905|.	T|.	0.14|.	-7.2322|-7.2322	6.558|6.558	0.22471|0.22471	0.2385:0.1457:0.6158:0.0|0.2385:0.1457:0.6158:0.0	.|.	1119;1036;1216;1154;1178;1180;1181;1180|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	M|V	936;1178;1181;918;1180;1154;1216;1036;1119|1117;892	ENSP00000400141:I936M;ENSP00000257075:I1178M;ENSP00000362852:I1181M;ENSP00000391723:I1180M;ENSP00000401777:I1154M;ENSP00000362846:I1216M;ENSP00000399440:I1036M;ENSP00000362847:I1119M|.	ENSP00000257075:I1178M|.	I|L	-|-	3|1	3|2	PUM1|PUM1	31178672|31178672	0.929000|0.929000	0.31497|0.31497	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.050000|0.050000	0.14120|0.14120	1.300000|1.300000	0.44818|0.44818	0.555000|0.555000	0.69702|0.69702	ATC|CTG	PUM1	-	NULL		0.547	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	G			31406085	-1	no_errors	ENST00000426105	ensembl	human	known	70_37	missense	SNP	1.000	C
PVR	5817	genome.wustl.edu	37	19	45162162	45162162	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:45162162C>T	ENST00000425690.3	+	6	1443	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	PVR_ENST00000403059.4_Intron|PVR_ENST00000344956.4_Intron|PVR_ENST00000406449.4_Missense_Mutation_p.P382S|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	382					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCATCTGTGTCCCTCGAGTGA	0.527																																																	0													123.0	117.0	119.0					19																	45162162		2203	4300	6503	SO:0001583	missense	5817			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.1144C>T	19.37:g.45162162C>T	ENSP00000402060:p.Pro382Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.P382S	ENST00000425690.3	37	c.1144	CCDS12640.1	19	.	.	.	.	.	.	.	.	.	.	C	6.188	0.402793	0.11696	.	.	ENSG00000073008	ENST00000425690;ENST00000406449	D;D	0.87179	-2.22;-2.14	2.54	-1.4	0.08968	.	3.494250	0.01485	U	0.016845	T	0.65428	0.2690	N	0.01352	-0.895	0.09310	N	1	B;B	0.29552	0.248;0.16	B;B	0.26202	0.067;0.03	T	0.62148	-0.6915	10	0.19590	T	0.45	.	5.3357	0.15957	0.0:0.449:0.3445:0.2065	.	382;382	P15151-4;P15151	.;PVR_HUMAN	S	382	ENSP00000402060:P382S;ENSP00000383907:P382S	ENSP00000383907:P382S	P	+	1	0	PVR	49854002	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.417000	0.21214	-0.190000	0.10465	-0.321000	0.08615	CCC	PVR	-	NULL		0.527	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	HGNC	protein_coding	OTTHUMT00000323017.2	C	NM_006505		45162162	+1	no_errors	ENST00000425690	ensembl	human	known	70_37	missense	SNP	0.000	T
PYGM	5837	genome.wustl.edu	37	11	64519472	64519472	+	Silent	SNP	G	G	A	rs116812032		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:64519472G>A	ENST00000164139.3	-	14	2090	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	PYGM_ENST00000462303.1_5'UTR|PYGM_ENST00000377432.3_Silent_p.F476F	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	564					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTGGATGTCGAAGAGTGAGT	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23340	0.0		0.0	False		,,,				2504	0.0																0								G	,	0,4402		0,0,2201	220.0	186.0	197.0		1428,1692	2.2	1.0	11	dbSNP_132	197	6,8588	5.0+/-18.6	0,6,4291	no	coding-synonymous,coding-synonymous	PYGM	NM_001164716.1,NM_005609.2	,	0,6,6492	AA,AG,GG		0.0698,0.0,0.0462	,	476/755,564/843	64519472	6,12990	2201	4297	6498	SO:0001819	synonymous_variant	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1692C>T	11.37:g.64519472G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVK1|A6NDY6	Silent	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.F564	ENST00000164139.3	37	c.1692	CCDS8079.1	11																																																																																			PYGM	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas		0.522	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	G	NM_005609		64519472	-1	no_errors	ENST00000164139	ensembl	human	known	70_37	silent	SNP	1.000	A
QPCTL	54814	genome.wustl.edu	37	19	46201892	46201892	+	Missense_Mutation	SNP	C	C	T	rs375848663		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:46201892C>T	ENST00000012049.5	+	4	942	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	QPCTL_ENST00000366382.4_Missense_Mutation_p.R147W	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	241					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		TTACGGTTCCCGGCACCTGGC	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16674	0.0		0.0	False		,,,				2504	0.0																0													39.0	43.0	42.0					19																	46201892		2203	4300	6503	SO:0001583	missense	54814			AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.721C>T	19.37:g.46201892C>T	ENSP00000012049:p.Arg241Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53HE4|Q96F74	Missense_Mutation	SNP	pfam_Peptidase_M28	p.R241W	ENST00000012049.5	37	c.721	CCDS12672.1	19	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572309	0.86542	.	.	ENSG00000011478	ENST00000012049;ENST00000366382	T;T	0.54071	0.59;0.59	5.83	3.67	0.42095	Peptidase M28 (1);	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78173	-0.2307	10	0.66056	D	0.02	-14.4926	9.5684	0.39414	0.0:0.7786:0.1435:0.078	.	241	Q9NXS2	QPCTL_HUMAN	W	241;147	ENSP00000012049:R241W;ENSP00000387944:R147W	ENSP00000012049:R241W	R	+	1	2	QPCTL	50893732	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.194000	0.77789	0.787000	0.33731	0.655000	0.94253	CGG	QPCTL	-	pfam_Peptidase_M28		0.632	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCTL	HGNC	protein_coding	OTTHUMT00000459656.1	C	NM_017659		46201892	+1	no_errors	ENST00000012049	ensembl	human	known	70_37	missense	SNP	1.000	T
RALGAPB	57148	genome.wustl.edu	37	20	37191319	37191319	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:37191319G>A	ENST00000262879.6	+	24	3960	c.3676G>A	c.(3676-3678)Gat>Aat	p.D1226N	RALGAPB_ENST00000397042.3_Missense_Mutation_p.D1222N|RALGAPB_ENST00000397038.1_Missense_Mutation_p.D1004N|RALGAPB_ENST00000397040.1_Missense_Mutation_p.D1226N			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1226	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTGTTGTGATGATGGTGAAGG	0.403																																																	0													175.0	155.0	162.0					20																	37191319		2203	4300	6503	SO:0001583	missense	57148			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3676G>A	20.37:g.37191319G>A	ENSP00000262879:p.Asp1226Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP	p.D1226N	ENST00000262879.6	37	c.3676	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097233	0.76870	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37;-3.37	5.8	5.8	0.92144	Rap/ran-GAP (1);	0.142719	0.64402	D	0.000007	D	0.89234	0.6657	N	0.16368	0.405	0.58432	D	0.999999	P;P	0.37330	0.59;0.59	B;B	0.41202	0.35;0.35	D	0.86486	0.1794	10	0.16420	T	0.52	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	1222;1226	A2A2E9;Q86X10	.;RLGPB_HUMAN	N	1226;1222;1004;1226;1054	ENSP00000262879:D1226N;ENSP00000380235:D1222N;ENSP00000380231:D1004N;ENSP00000380233:D1226N;ENSP00000416646:D1054N	ENSP00000262879:D1226N	D	+	1	0	RALGAPB	36624733	1.000000	0.71417	0.998000	0.56505	0.754000	0.42855	5.260000	0.65490	2.758000	0.94735	0.563000	0.77884	GAT	RALGAPB	-	pfscan_Rap_GAP		0.403	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	G	NM_020336		37191319	+1	no_errors	ENST00000262879	ensembl	human	known	70_37	missense	SNP	1.000	A
RBM25	58517	genome.wustl.edu	37	14	73563725	73563725	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:73563725C>T	ENST00000261973.7	+	7	931	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C	RBM25_ENST00000526754.1_Missense_Mutation_p.R216C|RBM25_ENST00000525321.1_Missense_Mutation_p.R216C|RBM25_ENST00000527432.1_Missense_Mutation_p.R216C|RBM25_ENST00000540173.1_Missense_Mutation_p.R216C	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	216					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AGTTTTAATTCGTGAATACTC	0.433																																																	0													116.0	114.0	115.0					14																	73563725		2203	4300	6503	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.646C>T	14.37:g.73563725C>T	ENSP00000261973:p.Arg216Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom	p.R216C	ENST00000261973.7	37	c.646	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456412	0.63401	.	.	ENSG00000119707	ENST00000261973;ENST00000540173;ENST00000527432;ENST00000531500;ENST00000525321;ENST00000526754	T;T;T;T;T;T	0.33438	1.46;1.46;1.46;1.41;1.41;1.46	5.88	5.88	0.94601	.	0.052919	0.85682	D	0.000000	T	0.42108	0.1188	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.997;0.998	B;P	0.54924	0.446;0.764	T	0.14727	-1.0462	10	0.59425	D	0.04	.	14.9978	0.71446	0.1425:0.8575:0.0:0.0	.	216;216	P49756;P49756-2	RBM25_HUMAN;.	C	216	ENSP00000261973:R216C;ENSP00000437934:R216C;ENSP00000431150:R216C;ENSP00000434333:R216C;ENSP00000436868:R216C;ENSP00000436225:R216C	ENSP00000261973:R216C	R	+	1	0	RBM25	72633478	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	4.723000	0.61965	2.785000	0.95823	0.655000	0.94253	CGT	RBM25	-	NULL		0.433	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	C	XM_027330		73563725	+1	no_errors	ENST00000261973	ensembl	human	known	70_37	missense	SNP	1.000	T
RBM46	166863	genome.wustl.edu	37	4	155719379	155719379	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:155719379G>T	ENST00000281722.3	+	3	803	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	RBM46_ENST00000510397.1_Nonsense_Mutation_p.E190*|RBM46_ENST00000514866.1_Nonsense_Mutation_p.E190*	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	190	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TGCATTTGTGGAATATGAATC	0.338																																																	0													58.0	56.0	57.0					4																	155719379		2203	4293	6496	SO:0001587	stop_gained	166863			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.568G>T	4.37:g.155719379G>T	ENSP00000281722:p.Glu190*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWU8|B4DZ27	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E190*	ENST00000281722.3	37	c.568	CCDS3790.1	4	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757592	0.89843	.	.	ENSG00000151962	ENST00000514866;ENST00000281722;ENST00000510397	.	.	.	5.64	4.8	0.61643	.	0.149830	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.3518	10.5334	0.44990	0.1469:0.0:0.8531:0.0	.	.	.	.	X	190	.	ENSP00000281722:E190X	E	+	1	0	RBM46	155938829	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.628000	0.74262	1.389000	0.46526	0.563000	0.77884	GAA	RBM46	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac		0.338	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	HGNC	protein_coding	OTTHUMT00000365259.1	G	NM_144979		155719379	+1	no_errors	ENST00000281722	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RGS7	6000	genome.wustl.edu	37	1	241032132	241032132	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:241032132C>G	ENST00000407727.1	-	7	470	c.471G>C	c.(469-471)caG>caC	p.Q157H	RGS7_ENST00000331110.7_Missense_Mutation_p.Q131H|RGS7_ENST00000366565.1_Missense_Mutation_p.Q157H|RGS7_ENST00000348120.2_Missense_Mutation_p.Q104H|RGS7_ENST00000366563.1_Missense_Mutation_p.Q157H|RGS7_ENST00000401882.1_Missense_Mutation_p.Q104H|RGS7_ENST00000446183.2_Missense_Mutation_p.Q73H|RGS7_ENST00000366564.1_Missense_Mutation_p.Q157H|RGS7_ENST00000366562.4_Missense_Mutation_p.Q157H			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	157					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CAAATGCTCTCTGCAGCCTGG	0.468																																																	0													127.0	132.0	130.0					1																	241032132		2203	4300	6503	SO:0001583	missense	6000			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.471G>C	1.37:g.241032132C>G	ENSP00000384428:p.Gln157His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q157H	ENST00000407727.1	37	c.471		1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520122	0.44866	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T	0.33654	1.42;1.4;1.41;1.4;1.4;1.41;1.41;1.4;1.4	5.85	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.34521	1.04	0.54753	D	0.999982	D;D;D;D;P;B	0.89917	1.0;0.999;0.999;0.987;0.851;0.141	D;D;D;D;P;B	0.91635	0.993;0.998;0.999;0.944;0.803;0.155	T	0.18178	-1.0345	10	0.23891	T	0.37	-11.004	9.0822	0.36558	0.0:0.7777:0.0:0.2223	.	73;131;104;157;157;157	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.;.	H	131;157;157;157;104;73;157;157;104	ENSP00000331485:Q131H;ENSP00000355523:Q157H;ENSP00000355522:Q157H;ENSP00000355521:Q157H;ENSP00000341242:Q104H;ENSP00000390138:Q73H;ENSP00000355520:Q157H;ENSP00000384428:Q157H;ENSP00000385508:Q104H	ENSP00000331485:Q131H	Q	-	3	2	RGS7	239098755	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.687000	0.25407	1.478000	0.48253	0.655000	0.94253	CAG	RGS7	-	NULL		0.468	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		C	NM_002924		241032132	-1	no_errors	ENST00000407727	ensembl	human	known	70_37	missense	SNP	1.000	G
RIMS2	9699	genome.wustl.edu	37	8	104927785	104927785	+	Missense_Mutation	SNP	A	A	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:104927785A>C	ENST00000436393.2	+	5	1450	c.1209A>C	c.(1207-1209)aaA>aaC	p.K403N	RIMS2_ENST00000406091.3_Missense_Mutation_p.K625N|RIMS2_ENST00000507740.1_Missense_Mutation_p.K433N|RIMS2_ENST00000262231.10_Missense_Mutation_p.K480N			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	703					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGTAAAAAAAGGAAGTTTAG	0.323										HNSCC(12;0.0054)																																							0													101.0	95.0	97.0					8																	104927785		1820	4078	5898	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1209A>C	8.37:g.104927785A>C	ENSP00000390665:p.Lys403Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.K625N	ENST00000436393.2	37	c.1875		8	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208995	0.58343	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.98	2.02	0.26589	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.51975	0.1706	M	0.81112	2.525	0.80722	D	1	D;P;D;D;D;P	0.61697	0.974;0.827;0.99;0.968;0.968;0.916	D;P;D;P;P;P	0.71656	0.94;0.895;0.974;0.857;0.647;0.642	T	0.52177	-0.8610	9	0.87932	D	0	.	8.7828	0.34802	0.6824:0.0:0.3176:0.0	.	703;703;403;480;433;625	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	N	625;656;625;703;16;433;480;433;433;403	ENSP00000427018:K625N;ENSP00000384892:K625N;ENSP00000425205:K433N;ENSP00000262231:K480N;ENSP00000423559:K433N;ENSP00000386228:K433N;ENSP00000390665:K403N	ENSP00000262231:K480N	K	+	3	2	RIMS2	104996961	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.849000	0.39318	0.416000	0.25844	-0.263000	0.10527	AAA	RIMS2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.323	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	A	NM_001100117		104927785	+1	no_errors	ENST00000406091	ensembl	human	known	70_37	missense	SNP	1.000	C
RIMS2	9699	genome.wustl.edu	37	8	104933999	104933999	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:104933999C>G	ENST00000436393.2	+	8	1758	c.1517C>G	c.(1516-1518)tCa>tGa	p.S506*	RIMS2_ENST00000406091.3_Nonsense_Mutation_p.S728*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.S536*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.S583*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	806					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAGTTCTTATCAGGACAACTT	0.353										HNSCC(12;0.0054)																																							0													146.0	132.0	137.0					8																	104933999		1851	4093	5944	SO:0001587	stop_gained	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1517C>G	8.37:g.104933999C>G	ENSP00000390665:p.Ser506*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.S728*	ENST00000436393.2	37	c.2183		8	.	.	.	.	.	.	.	.	.	.	C	39	7.561352	0.98358	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	20.1576	0.98120	0.0:1.0:0.0:0.0	.	.	.	.	X	728;759;728;806;536;583;536;536;506	.	ENSP00000262231:S583X	S	+	2	0	RIMS2	105003175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.746000	0.85057	2.773000	0.95371	0.650000	0.86243	TCA	RIMS2	-	NULL		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	C	NM_001100117		104933999	+1	no_errors	ENST00000406091	ensembl	human	known	70_37	nonsense	SNP	1.000	G
RLF	6018	genome.wustl.edu	37	1	40705543	40705543	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:40705543C>G	ENST00000372771.4	+	8	5196	c.5169C>G	c.(5167-5169)atC>atG	p.I1723M		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1723					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TACCAAGGATCAAAGAATCAG	0.413																																																	0													52.0	53.0	52.0					1																	40705543		2202	4295	6497	SO:0001583	missense	6018				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5169C>G	1.37:g.40705543C>G	ENSP00000361857:p.Ile1723Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I1723M	ENST00000372771.4	37	c.5169	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123923	0.20959	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14766	2.48	5.87	2.86	0.33363	.	0.699980	0.15247	N	0.272522	T	0.07413	0.0187	N	0.22421	0.69	0.37327	D	0.90979	B;B	0.32653	0.372;0.379	B;B	0.28916	0.096;0.071	T	0.26744	-1.0094	10	0.40728	T	0.16	-4.5703	3.5589	0.07874	0.2243:0.4619:0.2324:0.0814	.	1416;1723	F5H2M5;Q13129	.;RLF_HUMAN	M	1723;1416	ENSP00000361857:I1723M	ENSP00000361857:I1723M	I	+	3	3	RLF	40478130	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.870000	0.28010	1.628000	0.50416	-0.150000	0.13652	ATC	RLF	-	NULL		0.413	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	C	NM_012421		40705543	+1	no_errors	ENST00000372771	ensembl	human	known	70_37	missense	SNP	1.000	G
RNF213	57674	genome.wustl.edu	37	17	78269550	78269550	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:78269550C>G	ENST00000582970.1	+	10	2092	c.1949C>G	c.(1948-1950)tCa>tGa	p.S650*	RNF213_ENST00000319921.4_Nonsense_Mutation_p.S650*|RNF213_ENST00000456466.1_Nonsense_Mutation_p.S650*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.S699*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	650					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTCCTAACCTCAGATGCCAGC	0.408																																																	0													132.0	120.0	124.0					17																	78269550		2203	4300	6503	SO:0001587	stop_gained	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1949C>G	17.37:g.78269550C>G	ENSP00000464087:p.Ser650*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S650*	ENST00000582970.1	37	c.1949	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.660594	0.97743	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.15	-1.45	0.08828	.	3.392000	0.01184	N	0.007173	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-0.5978	3.938	0.09314	0.0:0.3886:0.1827:0.4287	.	.	.	.	X	650;699;650;650	.	ENSP00000324392:S650X	S	+	2	0	RNF213	75884145	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.127000	0.10547	-0.095000	0.12351	0.558000	0.71614	TCA	RNF213	-	NULL		0.408	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78269550	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	nonsense	SNP	0.000	G
RPAIN	84268	genome.wustl.edu	37	17	5329587	5329587	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:5329587G>C	ENST00000381209.3	+	5	1027	c.457G>C	c.(457-459)Gtg>Ctg	p.V153L	RPAIN_ENST00000381208.5_Missense_Mutation_p.V153L|RPAIN_ENST00000327154.6_Intron|RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000536255.2_Intron|RPAIN_ENST00000405578.4_Missense_Mutation_p.V153L|CTC-524C5.2_ENST00000575890.1_RNA	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	153					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CGGTGTGGTGGTGTGTCAGTG	0.478																																																	0													329.0	239.0	270.0					17																	5329587		2203	4300	6503	SO:0001583	missense	84268			AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.457G>C	17.37:g.5329587G>C	ENSP00000370606:p.Val153Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Missense_Mutation	SNP	NULL	p.V153L	ENST00000381209.3	37	c.457	CCDS32536.1	17	.	.	.	.	.	.	.	.	.	.	G	7.755	0.704260	0.15172	.	.	ENSG00000129197	ENST00000381209;ENST00000381208;ENST00000405578	T;T;T	0.45276	0.94;0.92;0.9	5.32	-9.06	0.00727	.	1.982030	0.01899	N	0.039094	T	0.19644	0.0472	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.11235	0.001;0.001;0.0;0.004	B;B;B;B	0.11329	0.002;0.004;0.001;0.006	T	0.15037	-1.0451	10	0.10902	T	0.67	-17.5417	8.3549	0.32324	0.3788:0.267:0.3542:0.0	.	153;153;153;153	E9PES3;E9PDG9;Q86UA6;B4DI36	.;.;RIP_HUMAN;.	L	153	ENSP00000370606:V153L;ENSP00000370605:V153L;ENSP00000385814:V153L	ENSP00000370605:V153L	V	+	1	0	RPAIN	5270311	0.000000	0.05858	0.001000	0.08648	0.926000	0.56050	-1.911000	0.01583	-1.293000	0.02362	-0.253000	0.11424	GTG	RPAIN	-	NULL		0.478	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAIN	HGNC	protein_coding	OTTHUMT00000439373.1	G	NM_001033002		5329587	+1	no_errors	ENST00000405578	ensembl	human	known	70_37	missense	SNP	0.000	C
RNF213	57674	genome.wustl.edu	37	17	78269596	78269596	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:78269596C>T	ENST00000582970.1	+	10	2138	c.1995C>T	c.(1993-1995)atC>atT	p.I665I	RNF213_ENST00000319921.4_Silent_p.I665I|RNF213_ENST00000456466.1_Silent_p.I665I|RNF213_ENST00000508628.2_Silent_p.I714I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	665					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAGCCACATCCTTGGGATAC	0.383																																																	0													122.0	113.0	116.0					17																	78269596		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1995C>T	17.37:g.78269596C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.I665	ENST00000582970.1	37	c.1995	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.383	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78269596	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.021	T
RPSAP58	388524	genome.wustl.edu	37	19	24010669	24010669	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:24010669C>T	ENST00000496398.1	+	4	1129	c.706C>T	c.(706-708)Cct>Tct	p.P236S	RPSAP58_ENST00000354585.4_Missense_Mutation_p.P236S|RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA					ribosomal protein SA pseudogene 58											endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						TGCTCCCTCTCCTGAGTTCAC	0.517																																																	0																																										SO:0001583	missense	388524					19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.706C>T	19.37:g.24010669C>T	ENSP00000417240:p.Pro236Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc	p.P236S	ENST00000496398.1	37	c.706		19	.	.	.	.	.	.	.	.	.	.	.	7.678	0.688441	0.14973	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.42900	0.96;0.96	2.75	2.75	0.32379	.	0.255276	0.31673	U	0.007256	T	0.28300	0.0699	.	.	.	0.26657	N	0.971999	B	0.23891	0.093	B	0.32724	0.151	T	0.15983	-1.0418	9	0.21014	T	0.42	.	7.8493	0.29444	0.0:0.7407:0.2593:0.0	.	236	A6NE09	.	S	236	ENSP00000417240:P236S;ENSP00000346598:P236S	ENSP00000346598:P236S	P	+	1	0	RPSAP58	23802509	0.491000	0.26019	0.842000	0.33263	0.993000	0.82548	0.365000	0.20348	1.596000	0.50062	0.627000	0.83407	CCT	RPSAP58	-	NULL		0.517	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	RPSAP58	HGNC	protein_coding	OTTHUMT00000350238.1	C	NR_003662		24010669	+1	no_errors	ENST00000354585	ensembl	human	known	70_37	missense	SNP	0.816	T
RPL28	6158	genome.wustl.edu	37	19	55898086	55898086	+	Intron	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:55898086G>C	ENST00000344063.2	+	3	834				RPL28_ENST00000558815.1_Intron|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000560583.1_Intron|RPL28_ENST00000559463.1_Intron|RPL28_ENST00000428193.2_Intron|RPL28_ENST00000560055.1_Intron|RPL28_ENST00000431533.2_Missense_Mutation_p.R77T|RPL28_ENST00000558752.1_Intron|RPL28_ENST00000458349.2_Intron|TMEM238_ENST00000444469.3_5'Flank			P46779	RL28_HUMAN	ribosomal protein L28						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTTTGGGCCAGAGAGCGGCCC	0.612																																																	0													76.0	82.0	80.0					19																	55898086		2203	4300	6503	SO:0001627	intron_variant	6158			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.205+25G>C	19.37:g.55898086G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	NULL	p.R77T	ENST00000344063.2	37	c.230	CCDS12924.1	19	.	.	.	.	.	.	.	.	.	.	g	3.008	-0.204630	0.06180	.	.	ENSG00000108107	ENST00000431533	T	0.53206	0.63	1.79	0.731	0.18277	.	.	.	.	.	T	0.25938	0.0632	.	.	.	0.09310	N	0.999999	B	0.23058	0.079	B	0.14023	0.01	T	0.16837	-1.0389	7	.	.	.	.	4.4229	0.11490	0.2044:0.0:0.7956:0.0	.	77	G5E9L2	.	T	77	ENSP00000400596:R77T	.	R	+	2	0	RPL28	60589898	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.504000	0.02275	0.329000	0.23460	-0.479000	0.04858	AGA	RPL28	-	NULL		0.612	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	HGNC	protein_coding	OTTHUMT00000416277.2	G	NM_000991		55898086	+1	no_errors	ENST00000431533	ensembl	human	known	70_37	missense	SNP	0.000	C
RYR2	6262	genome.wustl.edu	37	1	237777871	237777871	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:237777871G>A	ENST00000366574.2	+	37	5760	c.5443G>A	c.(5443-5445)Gaa>Aaa	p.E1815K	RYR2_ENST00000360064.6_Missense_Mutation_p.E1813K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1799K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1815	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGACTACTGAATTCCTCTT	0.483																																																	0													192.0	181.0	184.0					1																	237777871		1940	4146	6086	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5443G>A	1.37:g.237777871G>A	ENSP00000355533:p.Glu1815Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E1813K	ENST00000366574.2	37	c.5437	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260815	0.80246	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.75367	-0.93;-0.93;-0.93	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000010	T	0.75339	0.3836	M	0.72894	2.215	0.80722	D	1	B	0.31968	0.349	B	0.28553	0.091	T	0.76389	-0.2977	10	0.72032	D	0.01	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	1815	Q92736	RYR2_HUMAN	K	1815;1813;1799	ENSP00000355533:E1815K;ENSP00000353174:E1813K;ENSP00000443798:E1799K	ENSP00000353174:E1813K	E	+	1	0	RYR2	235844494	1.000000	0.71417	0.334000	0.25495	0.988000	0.76386	9.813000	0.99286	2.665000	0.90641	0.650000	0.86243	GAA	RYR2	-	NULL		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237777871	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A
SACS	26278	genome.wustl.edu	37	13	23905671	23905671	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:23905671G>C	ENST00000382292.3	-	9	12617	c.12344C>G	c.(12343-12345)tCt>tGt	p.S4115C	SACS_ENST00000382298.3_Missense_Mutation_p.S4115C|SACS_ENST00000402364.1_Missense_Mutation_p.S3365C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4115					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAGTGTCAGAAATCAAATT	0.363																																																	0													92.0	91.0	91.0					13																	23905671		2203	4299	6502	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12344C>G	13.37:g.23905671G>C	ENSP00000371729:p.Ser4115Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.S4115C	ENST00000382292.3	37	c.12344	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980030	0.74474	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88277	-2.21;-2.36;-2.21	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	L	0.36672	1.1	0.58432	D	0.999998	D	0.76494	0.999	D	0.69654	0.965	D	0.92589	0.6081	10	0.66056	D	0.02	.	18.948	0.92628	0.0:0.0:1.0:0.0	.	4115	Q9NZJ4	SACS_HUMAN	C	4115;3365;4115	ENSP00000371729:S4115C;ENSP00000385844:S3365C;ENSP00000371735:S4115C	ENSP00000371729:S4115C	S	-	2	0	SACS	22803671	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	9.785000	0.99042	2.458000	0.83093	0.650000	0.86243	TCT	SACS	-	NULL		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23905671	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	1.000	C
SAMD3	154075	genome.wustl.edu	37	6	130536361	130536361	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:130536361C>T	ENST00000368134.2	-	5	666	c.58G>A	c.(58-60)Gag>Aag	p.E20K	SAMD3_ENST00000457563.2_Missense_Mutation_p.E44K|SAMD3_ENST00000439090.2_Missense_Mutation_p.E20K|SAMD3_ENST00000532763.1_Missense_Mutation_p.E20K|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Missense_Mutation_p.E20K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E20K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	20	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGAACTAGCTCTCCTAAATTT	0.393																																																	0													101.0	101.0	101.0					6																	130536361		2203	4300	6503	SO:0001583	missense	154075			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.58G>A	6.37:g.130536361C>T	ENSP00000357116:p.Glu20Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E20K	ENST00000368134.2	37	c.58	CCDS34539.1	6	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032450	0.93575	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.9	5.9	0.94986	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000003	T	0.50309	0.1608	L	0.27053	0.805	0.49798	D	0.999825	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.71870	0.975;0.957;0.975	T	0.54111	-0.8342	10	0.72032	D	0.01	.	18.4605	0.90736	0.0:1.0:0.0:0.0	.	44;20;20	B4DY20;Q8N6K7-2;Q8N6K7	.;.;SAMD3_HUMAN	K	20;44;20;20;20;20;20;20;20	ENSP00000357116:E20K;ENSP00000402092:E44K;ENSP00000403565:E20K;ENSP00000391163:E20K;ENSP00000436088:E20K;ENSP00000324874:E20K;ENSP00000436115:E20K;ENSP00000435875:E20K;ENSP00000434139:E20K	ENSP00000324874:E20K	E	-	1	0	SAMD3	130578054	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.038000	0.64177	2.800000	0.96347	0.643000	0.83706	GAG	SAMD3	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.393	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3	C	NM_152552		130536361	-1	no_errors	ENST00000368134	ensembl	human	known	70_37	missense	SNP	1.000	T
SAMD8	142891	genome.wustl.edu	37	10	76924411	76924411	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:76924411G>C	ENST00000542569.1	+	3	690	c.587G>C	c.(586-588)aGa>aCa	p.R196T	SAMD8_ENST00000372687.4_Missense_Mutation_p.R196T|SAMD8_ENST00000372690.3_Missense_Mutation_p.R259T	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	196					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCGTTCCTAGAATCCCATGG	0.403																																																	0													216.0	193.0	201.0					10																	76924411		2203	4300	6503	SO:0001583	missense	142891			AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.587G>C	10.37:g.76924411G>C	ENSP00000438042:p.Arg196Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSC5|Q5JSC8|Q66K52	Missense_Mutation	SNP	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R259T	ENST00000542569.1	37	c.776	CCDS53543.1	10	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584422	0.86748	.	.	ENSG00000156671	ENST00000447533;ENST00000372690;ENST00000542569;ENST00000372687	D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	M	0.72894	2.215	0.58432	D	0.999997	D;P	0.60575	0.988;0.893	P;P	0.58721	0.844;0.601	D	0.94864	0.8024	10	0.39692	T	0.17	-15.1893	18.3006	0.90162	0.0:0.0:1.0:0.0	.	196;196	Q96LT4-2;Q96LT4	.;SAMD8_HUMAN	T	196;259;196;196	ENSP00000391799:R196T;ENSP00000361775:R259T;ENSP00000438042:R196T;ENSP00000361772:R196T	ENSP00000361772:R196T	R	+	2	0	SAMD8	76594417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.460000	0.97641	2.426000	0.82243	0.591000	0.81541	AGA	SAMD8	-	NULL		0.403	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD8	HGNC	protein_coding		G	NM_144660		76924411	+1	no_errors	ENST00000372690	ensembl	human	known	70_37	missense	SNP	1.000	C
SARS	6301	genome.wustl.edu	37	1	109780429	109780429	+	Silent	SNP	T	T	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:109780429T>C	ENST00000234677.2	+	11	1539	c.1464T>C	c.(1462-1464)caT>caC	p.H488H	SARS_ENST00000369923.4_Silent_p.H510H|SARS_ENST00000468588.1_3'UTR	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	488					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGAAGCAACATGAGGGCAGCA	0.512																																																	0													180.0	152.0	162.0					1																	109780429		2203	4300	6503	SO:0001819	synonymous_variant	6301			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1464T>C	1.37:g.109780429T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6Y9|Q5T5C8|Q9NSE3	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.H510	ENST00000234677.2	37	c.1530	CCDS795.1	1																																																																																			SARS	-	NULL		0.512	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	T	NM_006513		109780429	+1	no_errors	ENST00000369923	ensembl	human	known	70_37	silent	SNP	0.239	C
SARS2	54938	genome.wustl.edu	37	19	39416865	39416865	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:39416865C>T	ENST00000221431.6	-	2	502	c.343G>A	c.(343-345)Gag>Aag	p.E115K	SARS2_ENST00000594171.1_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.E115K|CTC-360G5.8_ENST00000599996.1_Silent_p.*184*|SARS2_ENST00000600042.1_Missense_Mutation_p.E115K|SARS2_ENST00000448145.2_Missense_Mutation_p.E115K	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	115					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CGCACTGCCTCAGTCACAGCT	0.572																																																	0													74.0	56.0	62.0					19																	39416865		2203	4300	6503	SO:0001583	missense	54938			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.343G>A	19.37:g.39416865C>T	ENSP00000221431:p.Glu115Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1	p.E115K	ENST00000221431.6	37	c.343	CCDS33017.1	19	.	.	.	.	.	.	.	.	.	.	C	2.818	-0.245532	0.05906	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145;ENST00000455102	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	4.47	3.36	0.38483	tRNA-binding arm (1);Seryl-tRNA synthetase, class IIa, N-terminal (1);	0.691756	0.13772	N	0.363853	T	0.25419	0.0618	L	0.36672	1.1	.	.	.	B;B;B;B;B	0.10296	0.003;0.001;0.0;0.001;0.0	B;B;B;B;B	0.12156	0.007;0.0;0.0;0.0;0.0	T	0.18366	-1.0339	9	0.08599	T	0.76	.	10.928	0.47201	0.0:0.809:0.191:0.0	.	115;115;115;115;115	B4DJP6;E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;.;SYSM_HUMAN	K	115	ENSP00000406754:E115K;ENSP00000221431:E115K;ENSP00000399330:E115K;ENSP00000414954:E115K	ENSP00000221431:E115K	E	-	1	0	FBXO17	44108705	0.018000	0.18449	0.921000	0.36526	0.064000	0.16182	0.746000	0.26275	2.191000	0.70037	0.407000	0.27541	GAG	SARS2	-	pirsf_Ser-tRNA-ligase_type_1,superfamily_tRNA-bd_arm,tigrfam_Ser-tRNA-ligase_type_1		0.572	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SARS2	HGNC	protein_coding	OTTHUMT00000463139.1	C	NM_017827		39416865	-1	no_errors	ENST00000600042	ensembl	human	known	70_37	missense	SNP	0.925	T
SATB2	23314	genome.wustl.edu	37	2	200173588	200173588	+	Silent	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:200173588C>A	ENST00000417098.1	-	10	2451	c.1635G>T	c.(1633-1635)ctG>ctT	p.L545L	SATB2_ENST00000260926.5_Silent_p.L545L|SATB2_ENST00000443023.1_Silent_p.L486L|SATB2_ENST00000457245.1_Silent_p.L545L|SATB2_ENST00000428695.1_Silent_p.L427L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	545					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGGGAAGGTTCAGGAAGCGAC	0.582																																					Colon(30;262 767 11040 24421 36230)												0													163.0	129.0	141.0					2																	200173588		2203	4300	6503	SO:0001819	synonymous_variant	23314			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1635G>T	2.37:g.200173588C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.L545	ENST00000417098.1	37	c.1635	CCDS2327.1	2																																																																																			SATB2	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT		0.582	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	C	NM_015265		200173588	-1	no_errors	ENST00000260926	ensembl	human	known	70_37	silent	SNP	1.000	A
SCYL3	57147	genome.wustl.edu	37	1	169823722	169823722	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:169823722G>A	ENST00000367770.1	-	12	1905	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	SCYL3_ENST00000367771.6_Missense_Mutation_p.P566S|SCYL3_ENST00000367772.4_Missense_Mutation_p.P620S			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	620	Interaction with EZR.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCTTTTGGGGTAAGCTTGAT	0.473																																																	0													102.0	106.0	105.0					1																	169823722		2203	4300	6503	SO:0001583	missense	57147			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1858C>T	1.37:g.169823722G>A	ENSP00000356744:p.Pro620Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom	p.P620S	ENST00000367770.1	37	c.1858	CCDS1287.1	1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205181	0.22205	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.14640	2.55;2.49;2.55;2.56	5.9	-0.319	0.12725	.	0.719545	0.14608	N	0.309199	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17038	0.02;0.001;0.002	B;B;B	0.20184	0.028;0.004;0.003	T	0.47262	-0.9131	10	0.06891	T	0.86	-4.6924	6.9331	0.24451	0.4224:0.1219:0.4557:0.0	.	212;566;620	B4E2Y0;Q8IZE3-2;Q8IZE3	.;.;PACE1_HUMAN	S	620;566;620;566	ENSP00000356746:P620S;ENSP00000356745:P566S;ENSP00000356744:P620S;ENSP00000407993:P566S	ENSP00000356744:P620S	P	-	1	0	SCYL3	168090346	0.002000	0.14202	0.001000	0.08648	0.067000	0.16453	0.096000	0.15147	0.038000	0.15604	-0.143000	0.13931	CCC	SCYL3	-	NULL		0.473	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4	G	NM_181093		169823722	-1	no_errors	ENST00000367770	ensembl	human	known	70_37	missense	SNP	0.003	A
SECISBP2	79048	genome.wustl.edu	37	9	91973638	91973638	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:91973638G>A	ENST00000375807.3	+	17	2535	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	SECISBP2_ENST00000534113.2_Missense_Mutation_p.E754K|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E749K|SEMA4D_ENST00000469653.1_5'Flank	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	822					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CATTTTAGTTGAAATCTGGAA	0.428																																																	0													93.0	88.0	90.0					9																	91973638		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2464G>A	9.37:g.91973638G>A	ENSP00000364965:p.Glu822Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.E822K	ENST00000375807.3	37	c.2464	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	G	8.734	0.917368	0.17982	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.67698	-0.28;-0.26;-0.26	4.59	0.448	0.16614	.	0.239856	0.41097	N	0.000957	T	0.44726	0.1307	L	0.27053	0.805	0.30996	N	0.720819	B;B;B	0.23377	0.051;0.084;0.051	B;B;B	0.23419	0.01;0.046;0.02	T	0.31641	-0.9936	10	0.16420	T	0.52	-11.2926	6.0615	0.19841	0.1588:0.5679:0.2733:0.0	.	829;749;822	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	K	822;828;749;754	ENSP00000364965:E822K;ENSP00000364959:E749K;ENSP00000436650:E754K	ENSP00000364959:E749K	E	+	1	0	SECISBP2	91163458	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	1.439000	0.35013	0.226000	0.20979	0.655000	0.94253	GAA	SECISBP2	-	NULL		0.428	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3	G	NM_024077		91973638	+1	no_errors	ENST00000375807	ensembl	human	known	70_37	missense	SNP	1.000	A
SETBP1	26040	genome.wustl.edu	37	18	42456540	42456540	+	Intron	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:42456540C>G	ENST00000282030.5	+	3	836				SETBP1_ENST00000426838.4_Missense_Mutation_p.S184C	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1							nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATTAAAGACTCCAGTAAGGAG	0.478									Schinzel-Giedion syndrome																																								0													51.0	49.0	50.0					18																	42456540		692	1591	2283	SO:0001627	intron_variant	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.540+7292C>G	18.37:g.42456540C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	NULL	p.S184C	ENST00000282030.5	37	c.551	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	C	7.709	0.694712	0.15039	.	.	ENSG00000152217	ENST00000426838	.	.	.	3.16	0.0691	0.14372	.	.	.	.	.	T	0.28300	0.0699	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.26467	-1.0102	7	0.72032	D	0.01	.	4.9673	0.14096	0.0:0.2367:0.3679:0.3954	.	184	Q9Y6X0-2	.	C	184	.	ENSP00000390687:S184C	S	+	2	0	SETBP1	40710538	0.000000	0.05858	0.001000	0.08648	0.289000	0.27227	-0.489000	0.06490	-0.001000	0.14495	0.462000	0.41574	TCC	SETBP1	-	NULL		0.478	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	C	NM_001130110		42456540	+1	no_errors	ENST00000426838	ensembl	human	known	70_37	missense	SNP	0.001	G
SGPP1	81537	genome.wustl.edu	37	14	64194288	64194288	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:64194288G>T	ENST00000247225.6	-	1	469	c.375C>A	c.(373-375)aaC>aaA	p.N125K		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	125					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGAGCGGCCAGTTGCTCACGC	0.697																																																	0													37.0	43.0	41.0					14																	64194288		2198	4300	6498	SO:0001583	missense	81537			AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.375C>A	14.37:g.64194288G>T	ENSP00000247225:p.Asn125Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAH0|Q9H189	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.N125K	ENST00000247225.6	37	c.375	CCDS9760.1	14	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318091	0.81469	.	.	ENSG00000126821	ENST00000247225	T	0.36878	1.23	4.58	3.68	0.42216	.	0.094731	0.64402	D	0.000001	T	0.41994	0.1183	L	0.60957	1.885	0.43467	D	0.995673	D	0.54397	0.966	P	0.48738	0.588	T	0.35301	-0.9794	10	0.51188	T	0.08	-16.8584	12.4927	0.55909	0.0826:0.0:0.9174:0.0	.	125	Q9BX95	SGPP1_HUMAN	K	125	ENSP00000247225:N125K	ENSP00000247225:N125K	N	-	3	2	SGPP1	63264041	1.000000	0.71417	0.898000	0.35279	0.822000	0.46500	5.443000	0.66581	0.905000	0.36596	0.455000	0.32223	AAC	SGPP1	-	superfamily_P_Acid_Pase_2/haloperoxidase		0.697	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP1	HGNC	protein_coding	OTTHUMT00000072626.3	G	NM_030791		64194288	-1	no_errors	ENST00000247225	ensembl	human	known	70_37	missense	SNP	0.999	T
SGSM1	129049	genome.wustl.edu	37	22	25289571	25289571	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:25289571C>T	ENST00000400359.4	+	18	2116	c.2109C>T	c.(2107-2109)atC>atT	p.I703I	SGSM1_ENST00000400358.4_Silent_p.I648I	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	703	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACTCAACCATCAGCAATGAGG	0.642																																																	0													15.0	17.0	16.0					22																	25289571		1958	4143	6101	SO:0001819	synonymous_variant	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2109C>T	22.37:g.25289571C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.I703	ENST00000400359.4	37	c.2109	CCDS46674.1	22																																																																																			SGSM1	-	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.642	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	C	XM_059318		25289571	+1	no_errors	ENST00000400359	ensembl	human	known	70_37	silent	SNP	1.000	T
SH3BP1	23616	genome.wustl.edu	37	22	38046109	38046109	+	Intron	SNP	G	G	C	rs147213616	byFrequency	TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:38046109G>C	ENST00000357436.4	+	15	1629				Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E445Q|SH3BP1_ENST00000599616.1_Intron|SH3BP1_ENST00000442465.2_Intron	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1						signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					gccagccagagagttggggtc	0.532																																																	0													46.0	45.0	46.0					22																	38046109		2203	4300	6503	SO:0001627	intron_variant	23616				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1317-50G>C	22.37:g.38046109G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.E445Q	ENST00000357436.4	37	c.1333	CCDS13952.2	22	.	.	.	.	.	.	.	.	.	.	G	7.236	0.600318	0.13939	.	.	ENSG00000100092	ENST00000336738	T	0.16597	2.33	1.81	0.784	0.18578	.	.	.	.	.	T	0.09949	0.0244	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37572	-0.9700	6	0.22109	T	0.4	.	3.9729	0.09462	0.2204:0.0:0.7796:0.0	.	.	.	.	Q	445	ENSP00000337213:E445Q	ENSP00000337213:E445Q	E	+	1	0	SH3BP1	36376055	0.003000	0.15002	0.001000	0.08648	0.133000	0.20885	0.513000	0.22770	0.342000	0.23796	0.563000	0.77884	GAG	SH3BP1	-	smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.532	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000075884.4	G	NM_018957		38046109	+1	no_errors	ENST00000336738	ensembl	human	known	70_37	missense	SNP	0.002	C
SH3RF2	153769	genome.wustl.edu	37	5	145435737	145435737	+	Missense_Mutation	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:145435737C>A	ENST00000511217.1	+	7	1568	c.1516C>A	c.(1516-1518)Caa>Aaa	p.Q506K	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.Q506K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	506					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTTTAGGACAAGGGTCTCT	0.567																																																	0													78.0	77.0	77.0					5																	145435737		2203	4300	6503	SO:0001583	missense	153769			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1516C>A	5.37:g.145435737C>A	ENSP00000424497:p.Gln506Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.Q506K	ENST00000511217.1	37	c.1516	CCDS4280.1	5	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806773	0.50421	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.20738	2.05;2.05	5.81	5.81	0.92471	.	0.207799	0.35207	N	0.003361	T	0.21145	0.0509	L	0.54323	1.7	0.31052	N	0.715093	P	0.39665	0.682	B	0.32980	0.156	T	0.25187	-1.0139	10	0.59425	D	0.04	-10.4748	14.4648	0.67477	0.0:0.8528:0.1472:0.0	.	506	Q8TEC5	SH3R2_HUMAN	K	506	ENSP00000352028:Q506K;ENSP00000424497:Q506K	ENSP00000352028:Q506K	Q	+	1	0	SH3RF2	145415930	0.890000	0.30428	1.000000	0.80357	0.755000	0.42902	3.212000	0.51145	2.746000	0.94184	0.655000	0.94253	CAA	SH3RF2	-	NULL		0.567	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1	C	NM_152550		145435737	+1	no_errors	ENST00000359120	ensembl	human	known	70_37	missense	SNP	0.990	A
SHANK3	85358	genome.wustl.edu	37	22	51113565	51113565	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:51113565C>T	ENST00000414786.2	+	2	380	c.153C>T	c.(151-153)ctC>ctT	p.L51L	SHANK3_ENST00000262795.3_Silent_p.L51L|SHANK3_ENST00000445220.2_Silent_p.L51L			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	51	Intramolecular interaction with the ANK repeats. {ECO:0000250}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGACGCGCTCAACTATGGGC	0.716																																																	0													6.0	7.0	7.0					22																	51113565		1811	3908	5719	SO:0001819	synonymous_variant	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.153C>T	22.37:g.51113565C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D7UT47|Q8TET3	Silent	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.L51	ENST00000414786.2	37	c.153		22																																																																																			SHANK3	-	NULL		0.716	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	C	NM_001080420		51113565	+1	no_errors	ENST00000262795	ensembl	human	known	70_37	silent	SNP	1.000	T
SIK3	23387	genome.wustl.edu	37	11	116728696	116728696	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:116728696G>C	ENST00000292055.4	-	20	3202	c.3167C>G	c.(3166-3168)tCa>tGa	p.S1056*	SIK3_ENST00000434315.2_Nonsense_Mutation_p.S895*|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000375300.1_Nonsense_Mutation_p.S1114*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.S391*|SIK3_ENST00000542607.1_Nonsense_Mutation_p.S996*|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Nonsense_Mutation_p.S1054*	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1056					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S1162*(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CAATGTACTTGAACTCTTACT	0.547																																																	2	Substitution - Nonsense(2)	upper_aerodigestive_tract(1)|large_intestine(1)											93.0	93.0	93.0					11																	116728696		2201	4296	6497	SO:0001587	stop_gained	23387			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3167C>G	11.37:g.116728696G>C	ENSP00000292055:p.Ser1056*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.S1114*	ENST00000292055.4	37	c.3341	CCDS8379.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.045545|7.045545	0.98025|0.98025	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|.	.|.	.|.	5.54|5.54	3.6|3.6	0.41247|0.41247	.|.	.|0.505775	.|0.14661	.|U	.|0.305982	T|.	0.49474|.	0.1559|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59936|.	-0.7360|.	3|.	.|0.72032	.|D	.|0.01	.|.	6.3893|6.3893	0.21577|0.21577	0.1655:0.1489:0.6856:0.0|0.1655:0.1489:0.6856:0.0	.|.	.|.	.|.	.|.	L|X	1155;1018|1114;1056;391;996;895	.|.	.|ENSP00000292055:S1056X	F|S	-|-	3|2	2|0	SIK3|SIK3	116233906|116233906	0.086000|0.086000	0.21541|0.21541	0.001000|0.001000	0.08648|0.08648	0.061000|0.061000	0.15899|0.15899	2.639000|2.639000	0.46570|0.46570	0.617000|0.617000	0.30160|0.30160	0.563000|0.563000	0.77884|0.77884	TTC|TCA	SIK3	-	NULL		0.547	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding		G	NM_025164		116728696	-1	no_errors	ENST00000375300	ensembl	human	known	70_37	nonsense	SNP	0.001	C
SKIV2L2	23517	genome.wustl.edu	37	5	54696067	54696067	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:54696067C>T	ENST00000230640.5	+	21	2553	c.2299C>T	c.(2299-2301)Cag>Tag	p.Q767*	SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.Q666*	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	767					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCAGGAAGTTCAGAAACGTTT	0.343																																					Melanoma(2;92 134 23744 29976 33782)												0													51.0	53.0	53.0					5																	54696067		2203	4300	6503	SO:0001587	stop_gained	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2299C>T	5.37:g.54696067C>T	ENSP00000230640:p.Gln767*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Nonsense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q767*	ENST00000230640.5	37	c.2299	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.334481	0.98217	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.2112	19.157	0.93516	0.0:1.0:0.0:0.0	.	.	.	.	X	767;666	.	ENSP00000230640:Q767X	Q	+	1	0	SKIV2L2	54731824	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.511000	0.67024	2.525000	0.85131	0.655000	0.94253	CAG	SKIV2L2	-	pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.343	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	C			54696067	+1	no_errors	ENST00000230640	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SKOR2	652991	genome.wustl.edu	37	18	44746342	44746342	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:44746342C>T	ENST00000425639.1	-	6	2956	c.2957G>A	c.(2956-2958)cGa>cAa	p.R986Q		NM_001278063.1	NP_001264992.1	Q2VWA4	SKOR2_HUMAN	SKI family transcriptional corepressor 2	986					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of cerebellar granule cell precursor proliferation (GO:0021936)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(1)	1						CATTTCTTCTCGGTAGGCTAG	0.333																																																	0																																										SO:0001583	missense	652991			AY669508	CCDS62441.1, CCDS74222.1	18q21.1	2011-08-04			ENSG00000215474	ENSG00000215474		"""SKI transcriptional corepressors"""	32695	protein-coding gene	gene with protein product	"""functional smad suppressing element 18"""					16200078, 18522874	Standard	NM_001278063		Approved	CORL2, FUSSEL18, Fussel-18	uc031rif.1	Q2VWA4		ENST00000425639.1:c.2957G>A	18.37:g.44746342C>T	ENSP00000414750:p.Arg986Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like,superfamily_FH2_actin-bd	p.R986Q	ENST00000425639.1	37	c.2957		18	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349632	0.82132	.	.	ENSG00000215474	ENST00000425639	T	0.50548	0.74	5.84	5.84	0.93424	.	.	.	.	.	T	0.69646	0.3134	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72090	-0.4395	6	0.87932	D	0	-2.481	19.7484	0.96259	0.0:1.0:0.0:0.0	.	.	.	.	Q	986	ENSP00000414750:R986Q	ENSP00000414750:R986Q	R	-	2	0	SKOR2	43000340	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.729000	0.62008	2.758000	0.94735	0.655000	0.94253	CGA	SKOR2	-	NULL		0.333	SKOR2-002	NOVEL	basic|appris_candidate_longest	protein_coding	SKOR2	HGNC	protein_coding	OTTHUMT00000450685.2	C	NM_001037802		44746342	-1	no_errors	ENST00000425639	ensembl	human	novel	70_37	missense	SNP	1.000	T
SLC12A5	57468	genome.wustl.edu	37	20	44681732	44681732	+	Silent	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:44681732C>G	ENST00000454036.2	+	19	2632	c.2583C>G	c.(2581-2583)ctC>ctG	p.L861L	SLC12A5_ENST00000243964.3_Silent_p.L838L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	861					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGGCATGCTCATGCTGCTGC	0.532																																																	0													202.0	123.0	150.0					20																	44681732		2203	4300	6503	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2583C>G	20.37:g.44681732C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L861	ENST00000454036.2	37	c.2583	CCDS46610.1	20																																																																																			SLC12A5	-	tigrfam_Na/K/Cl_cotransptS		0.532	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	C			44681732	+1	no_errors	ENST00000454036	ensembl	human	known	70_37	silent	SNP	1.000	G
SLC19A3	80704	genome.wustl.edu	37	2	228552884	228552884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:228552884G>A	ENST00000258403.3	-	5	1383	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	SLC19A3_ENST00000541617.1_Nonsense_Mutation_p.Q434*|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	438					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CAGCTTACCTGAATGCTGACT	0.383																																																	0													141.0	128.0	133.0					2																	228552884		2203	4300	6503	SO:0001587	stop_gained	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1312C>T	2.37:g.228552884G>A	ENSP00000258403:p.Gln438*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.Q438*	ENST00000258403.3	37	c.1312	CCDS2468.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.673914	0.97751	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	.	.	.	5.44	5.44	0.79542	.	0.173233	0.44097	D	0.000484	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.9469	19.454	0.94880	0.0:0.0:1.0:0.0	.	.	.	.	X	438;434	.	ENSP00000258403:Q438X	Q	-	1	0	SLC19A3	228261128	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.545000	0.90657	2.831000	0.97527	0.650000	0.86243	CAG	SLC19A3	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.383	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	G			228552884	-1	no_errors	ENST00000258403	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SLC24A2	25769	genome.wustl.edu	37	9	19786828	19786828	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:19786828C>T	ENST00000341998.2	-	1	98	c.37G>A	c.(37-39)Gag>Aag	p.E13K	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E13K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	13					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CACCATTTCTCTAGGGAAGTG	0.428																																																	0													138.0	134.0	135.0					9																	19786828		2203	4300	6503	SO:0001583	missense	25769			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.37G>A	9.37:g.19786828C>T	ENSP00000344801:p.Glu13Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.E13K	ENST00000341998.2	37	c.37	CCDS6493.1	9	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633739	0.47049	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.75821	-0.96;-0.97	5.83	3.95	0.45737	.	0.620653	0.16636	N	0.205836	T	0.59945	0.2231	N	0.24115	0.695	0.40395	D	0.979582	B;B	0.27971	0.196;0.1	B;B	0.26202	0.067;0.014	T	0.51601	-0.8685	9	.	.	.	.	12.7762	0.57451	0.1275:0.7429:0.1296:0.0	.	13;13	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	K	13	ENSP00000344801:E13K;ENSP00000286344:E13K	.	E	-	1	0	SLC24A2	19776828	1.000000	0.71417	0.997000	0.53966	0.943000	0.58893	4.142000	0.58044	0.762000	0.33152	0.650000	0.86243	GAG	SLC24A2	-	NULL		0.428	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	C	NM_020344		19786828	-1	no_errors	ENST00000341998	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC25A28	81894	genome.wustl.edu	37	10	101370574	101370574	+	3'UTR	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:101370574C>T	ENST00000370495.4	-	0	1155				SLC25A28_ENST00000496035.1_5'Flank	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28						ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		GCAGCAGTGTCATCTGAACCC	0.502																																																	0													70.0	70.0	70.0					10																	101370574		2021	4181	6202	SO:0001624	3_prime_UTR_variant	81894			AF327402	CCDS41559.1	10q24.2	2013-05-22	2012-03-29		ENSG00000155287	ENSG00000155287		"""Solute carriers"""	23472	protein-coding gene	gene with protein product	"""mitoferrin 2"""	609767	"""solute carrier family 25, member 28"""			11297739	Standard	NM_031212		Approved	MRS3/4, MRS4L	uc001kpx.2	Q96A46	OTTHUMG00000018886	ENST00000370495.4:c.*32G>A	10.37:g.101370574C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VBZ0|Q5T777|Q86VX5|Q969G8|Q9H2J3	RNA	SNP	-	NULL	ENST00000370495.4	37	NULL	CCDS41559.1	10																																																																																			SLC25A28	-	-		0.502	SLC25A28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A28	HGNC	protein_coding	OTTHUMT00000049801.1	C	NM_031212		101370574	-1	no_errors	ENST00000497217	ensembl	human	known	70_37	rna	SNP	0.000	T
SLC27A4	10999	genome.wustl.edu	37	9	131105558	131105558	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:131105558C>G	ENST00000300456.4	+	2	264	c.147C>G	c.(145-147)atC>atG	p.I49M	SLC27A4_ENST00000372870.1_Missense_Mutation_p.Q77E	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	49					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCAAGACCATCAGGCGCGATA	0.582																																					Pancreas(107;1554 2241 10946 12953)												0													93.0	81.0	85.0					9																	131105558		2203	4300	6503	SO:0001583	missense	10999			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.147C>G	9.37:g.131105558C>G	ENSP00000300456:p.Ile49Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.I49M	ENST00000300456.4	37	c.147	CCDS6899.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.04|11.04	1.522740|1.522740	0.27211|0.27211	.|.	.|.	ENSG00000167114|ENSG00000167114	ENST00000300456|ENST00000372870	T|T	0.52754|0.47869	0.65|0.83	5.4|5.4	2.09|2.09	0.27110|0.27110	.|.	0.616688|.	0.16555|.	N|.	0.209304|.	T|T	0.47691|0.47691	0.1459|0.1459	L|L	0.58101|0.58101	1.795|1.795	0.23585|0.23585	N|N	0.997351|0.997351	B|D	0.33135|0.54772	0.399|0.968	B|P	0.40066|0.54924	0.318|0.764	T|T	0.36817|0.36817	-0.9732|-0.9732	10|9	0.56958|0.07990	D|T	0.05|0.79	-10.2961|-10.2961	5.6539|5.6539	0.17633|0.17633	0.5147:0.3855:0.0:0.0997|0.5147:0.3855:0.0:0.0997	.|.	49|77	Q6P1M0|Q96G53	S27A4_HUMAN|.	M|E	49|77	ENSP00000300456:I49M|ENSP00000361961:Q77E	ENSP00000300456:I49M|ENSP00000361961:Q77E	I|Q	+|+	3|1	3|0	SLC27A4|SLC27A4	130145379|130145379	0.992000|0.992000	0.36948|0.36948	0.437000|0.437000	0.26809|0.26809	0.272000|0.272000	0.26649|0.26649	0.472000|0.472000	0.22116|0.22116	1.227000|1.227000	0.43598|0.43598	0.467000|0.467000	0.42956|0.42956	ATC|CAG	SLC27A4	-	NULL		0.582	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A4	HGNC	protein_coding	OTTHUMT00000054432.2	C			131105558	+1	no_errors	ENST00000300456	ensembl	human	known	70_37	missense	SNP	0.355	G
SLC44A2	57153	genome.wustl.edu	37	19	10742318	10742318	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:10742318C>T	ENST00000335757.5	+	8	895	c.519C>T	c.(517-519)ttC>ttT	p.F173F	SLC44A2_ENST00000586078.1_Silent_p.F173F|SLC44A2_ENST00000407327.4_Silent_p.F171F			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	173					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGAGATGCTTCCCCGCTATCC	0.617																																																	0													62.0	55.0	58.0					19																	10742318		2203	4300	6503	SO:0001819	synonymous_variant	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.519C>T	19.37:g.10742318C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	pfam_Choline_transptr-like	p.F173	ENST00000335757.5	37	c.519	CCDS12245.1	19																																																																																			SLC44A2	-	NULL		0.617	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1	C			10742318	+1	no_errors	ENST00000335757	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC4A10	57282	genome.wustl.edu	37	2	162661046	162661046	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:162661046G>A	ENST00000446997.1	+	3	311	c.218G>A	c.(217-219)aGa>aAa	p.R73K	SLC4A10_ENST00000535165.1_Missense_Mutation_p.R73K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R73K|SLC4A10_ENST00000375514.5_Missense_Mutation_p.R84K|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R73K|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R73K	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	73					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CATAAACACAGAAAGAGAGAC	0.403																																																	0													90.0	95.0	93.0					2																	162661046		1904	4121	6025	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.218G>A	2.37:g.162661046G>A	ENSP00000393066:p.Arg73Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R73K	ENST00000446997.1	37	c.218	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099338	0.56183	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T;T	0.79141	-1.23;-1.23;0.59;-1.23;-1.24;-1.24	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	L	0.35487	1.065	0.48975	D	0.999733	B;B;B;B	0.31752	0.338;0.002;0.338;0.002	B;B;B;B	0.42030	0.373;0.006;0.373;0.005	T	0.67333	-0.5697	10	0.10902	T	0.67	.	19.4529	0.94875	0.0:0.0:1.0:0.0	.	84;73;73;73	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	K	84;73;73;73;73;73;73;73	ENSP00000364664:R84K;ENSP00000395797:R73K;ENSP00000437527:R73K;ENSP00000272716:R73K;ENSP00000393066:R73K;ENSP00000404486:R73K	ENSP00000272716:R73K	R	+	2	0	SLC4A10	162369292	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	8.361000	0.90098	2.685000	0.91497	0.455000	0.32223	AGA	SLC4A10	-	NULL		0.403	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	G	NM_022058		162661046	+1	no_errors	ENST00000446997	ensembl	human	known	70_37	missense	SNP	1.000	A
SMIM7	79086	genome.wustl.edu	37	19	16758009	16758009	+	3'UTR	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:16758009G>C	ENST00000487416.2	-	0	322				SMIM7_ENST00000597711.1_3'UTR|CTC-429P9.4_ENST00000593962.1_5'UTR|CTC-429P9.4_ENST00000600705.1_3'UTR|SMIM7_ENST00000397349.2_5'UTR	NM_024104.3	NP_077009.2	Q9BQ49	SMIM7_HUMAN	small integral membrane protein 7							integral component of membrane (GO:0016021)											TGGAGGAATGGAGACTCGGCA	0.507																																																	0													91.0	89.0	89.0					19																	16758009		2203	4300	6503	SO:0001624	3_prime_UTR_variant	79086			AK025602	CCDS12348.2, CCDS74307.1	19p13.11	2012-10-26	2012-10-26	2012-10-26	ENSG00000214046	ENSG00000214046			28419	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 42"""	C19orf42		12477932	Standard	NM_024104		Approved	MGC2747	uc002ner.3	Q9BQ49	OTTHUMG00000149895	ENST00000487416.2:c.*48C>G	19.37:g.16758009G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX44	RNA	SNP	-	NULL	ENST00000487416.2	37	NULL	CCDS12348.2	19																																																																																			SMIM7	-	-		0.507	SMIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMIM7	HGNC	protein_coding	OTTHUMT00000313801.2	G	NM_024104		16758009	-1	no_errors	ENST00000397349	ensembl	human	known	70_37	rna	SNP	0.000	C
SNHG14	104472715	genome.wustl.edu	37	15	25436571	25436571	+	RNA	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:25436571G>C	ENST00000424208.1	+	0	1092				SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000363358.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNORD115-11_ENST00000363616.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGGGTCGATGATGAGAACCT	0.532																																																	0													401.0	402.0	402.0					15																	25436571		876	1991	2867			100033449					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436571G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-12	-	-		0.532	SNHG14-002	KNOWN	basic	antisense	SNORD115-12	HGNC	processed_transcript	OTTHUMT00000126729.2	G			25436571	+1	no_errors	ENST00000362583	ensembl	human	known	70_37	rna	SNP	0.876	C
SOCS5	9655	genome.wustl.edu	37	2	46985885	46985885	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:46985885G>A	ENST00000306503.5	+	2	388	c.216G>A	c.(214-216)tcG>tcA	p.S72S	SOCS5_ENST00000394861.2_Silent_p.S72S	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	72					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TAAGCCCTTCGAAGAATTCTT	0.388																																																	0													64.0	63.0	64.0					2																	46985885		2203	4300	6503	SO:0001819	synonymous_variant	9655			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.216G>A	2.37:g.46985885G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SD4|Q8IYZ4	Silent	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.S72	ENST00000306503.5	37	c.216	CCDS1830.1	2																																																																																			SOCS5	-	NULL		0.388	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	G			46985885	+1	no_errors	ENST00000306503	ensembl	human	known	70_37	silent	SNP	0.622	A
SOX7	83595	genome.wustl.edu	37	8	10583602	10583602	+	Missense_Mutation	SNP	C	C	A	rs535710246|rs375844109	byFrequency	TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:10583602C>A	ENST00000304501.1	-	2	891	c.813G>T	c.(811-813)atG>atT	p.M271I	SOX7_ENST00000554914.1_Missense_Mutation_p.M323I|SOX7_ENST00000553390.1_Missense_Mutation_p.M323I	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	271	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GTACAGGGGACATCATGGAGA	0.672																																																	0													27.0	34.0	32.0					8																	10583602		2196	4299	6495	SO:0001583	missense	83595			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.813G>T	8.37:g.10583602C>A	ENSP00000301921:p.Met271Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKV0|Q53YD0	Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_superfamily	p.M323I	ENST00000304501.1	37	c.969	CCDS5977.1	8	.	.	.	.	.	.	.	.	.	.	C	5.775	0.327440	0.10956	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	T;T;T	0.76186	-1.0;-1.0;-1.0	4.89	3.95	0.45737	.	0.173783	0.49305	D	0.000153	T	0.51652	0.1687	N	0.05351	-0.065	0.27582	N	0.94954	B;B	0.12630	0.006;0.0	B;B	0.11329	0.006;0.001	T	0.41787	-0.9489	10	0.33940	T	0.23	.	9.1759	0.37112	0.1296:0.6647:0.2057:0.0	.	323;271	B4DKV0;Q9BT81	.;SOX7_HUMAN	I	271;323;323	ENSP00000301921:M271I;ENSP00000452017:M323I;ENSP00000451145:M323I	ENSP00000346908:M323I	M	-	3	0	SOX7;CTD-2135J3.4	10621012	0.997000	0.39634	0.998000	0.56505	0.390000	0.30446	0.843000	0.27640	2.241000	0.73720	0.462000	0.41574	ATG	SOX7	-	pfam_Sox_C_TAD		0.672	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	HGNC	protein_coding	OTTHUMT00000207131.1	C			10583602	-1	no_errors	ENST00000553390	ensembl	human	known	70_37	missense	SNP	0.997	A
SPNS2	124976	genome.wustl.edu	37	17	4436614	4436614	+	Missense_Mutation	SNP	C	C	T	rs368400793		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:4436614C>T	ENST00000329078.3	+	8	1375	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	389					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GCGCTGGTGCCGCCTGAAGAC	0.642																																																	0									CYS/ARG	0,3134		0,0,1567	35.0	36.0	36.0		1165	4.8	1.0	17		36	3,7161		0,3,3579	no	missense	SPNS2	NM_001124758.1	180	0,3,5146	TT,TC,CC		0.0419,0.0,0.0291	probably-damaging	389/550	4436614	3,10295	1567	3582	5149	SO:0001583	missense	124976			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1165C>T	17.37:g.4436614C>T	ENSP00000333292:p.Arg389Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A1T3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R389C	ENST00000329078.3	37	c.1165	CCDS42237.1	17	.	.	.	.	.	.	.	.	.	.	c	22.2	4.256438	0.80246	0.0	4.19E-4	ENSG00000183018	ENST00000329078	T	0.59906	0.23	4.79	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.72353	2.195	0.80722	D	1	P	0.46277	0.875	P	0.44422	0.449	T	0.69367	-0.5164	10	0.59425	D	0.04	.	16.3995	0.83635	0.0:1.0:0.0:0.0	.	389	Q8IVW8	SPNS2_HUMAN	C	389	ENSP00000333292:R389C	ENSP00000333292:R389C	R	+	1	0	SPNS2	4383363	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.152000	0.50677	2.198000	0.70561	0.486000	0.48141	CGC	SPNS2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.642	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	C			4436614	+1	no_errors	ENST00000329078	ensembl	human	known	70_37	missense	SNP	1.000	T
SPOCK1	6695	genome.wustl.edu	37	5	136315127	136315127	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:136315127G>A	ENST00000394945.1	-	10	1192	c.1023C>T	c.(1021-1023)ggC>ggT	p.G341G	SPOCK1_ENST00000282223.7_Silent_p.G341G|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	341	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTGTAATAGCCCTCCTCAT	0.532																																																	0													113.0	102.0	106.0					5																	136315127		2203	4300	6503	SO:0001819	synonymous_variant	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1023C>T	5.37:g.136315127G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Silent	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.G341	ENST00000394945.1	37	c.1023	CCDS4191.1	5																																																																																			SPOCK1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1		0.532	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOCK1	HGNC	protein_coding	OTTHUMT00000251222.1	G	NM_004598		136315127	-1	no_errors	ENST00000282223	ensembl	human	known	70_37	silent	SNP	0.997	A
SREBF1	6720	genome.wustl.edu	37	17	17716720	17716720	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:17716720C>T	ENST00000261646.5	-	18	3360	c.3176G>A	c.(3175-3177)cGc>cAc	p.R1059H	SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000395757.1_Missense_Mutation_p.R805H|SREBF1_ENST00000355815.4_Missense_Mutation_p.R1089H|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1059					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCTCAGACTGCGGTCGAGGAG	0.697																																																	0													15.0	19.0	18.0					17																	17716720		2188	4291	6479	SO:0001583	missense	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3176G>A	17.37:g.17716720C>T	ENSP00000261646:p.Arg1059His	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.R1089H	ENST00000261646.5	37	c.3266	CCDS11189.1	17	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967458	0.34754	.	.	ENSG00000072310	ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	T;T;T	0.13089	2.62;2.62;2.62	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	L	0.60067	1.865	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.782	D;D;B	0.91635	0.998;0.999;0.296	T	0.01966	-1.1238	10	0.20046	T	0.44	-20.4027	18.6002	0.91246	0.0:1.0:0.0:0.0	.	1059;1089;678	P36956;P36956-4;A8MTU8	SRBP1_HUMAN;.;.	H	1089;1059;805;678;896;985	ENSP00000348069:R1089H;ENSP00000261646:R1059H;ENSP00000379106:R805H	ENSP00000261646:R1059H	R	-	2	0	SREBF1	17657445	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	2.088000	0.41663	2.483000	0.83821	0.561000	0.74099	CGC	SREBF1	-	NULL		0.697	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	C	NM_004176		17716720	-1	no_errors	ENST00000355815	ensembl	human	known	70_37	missense	SNP	1.000	T
SREK1	140890	genome.wustl.edu	37	5	65465899	65465899	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:65465899C>T	ENST00000380918.3	+	9	1334	c.674C>T	c.(673-675)tCa>tTa	p.S225L	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Missense_Mutation_p.S341L	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	225	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						CATAATAGATCACGTTCAAGA	0.353																																					GBM(10;31 347 27684 38976 41583)												0													40.0	39.0	39.0					5																	65465899		2203	4300	6503	SO:0001583	missense	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.674C>T	5.37:g.65465899C>T	ENSP00000370305:p.Ser225Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S341L	ENST00000380918.3	37	c.1022	CCDS3991.1	5	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354906	0.82243	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.25912	1.77;1.77	5.52	5.52	0.82312	.	0.554771	0.19065	N	0.123648	T	0.48114	0.1482	L	0.52573	1.65	0.52099	D	0.999942	D;D;D	0.61080	0.981;0.981;0.989	D;D;D	0.75020	0.95;0.95;0.985	T	0.31024	-0.9958	10	0.49607	T	0.09	.	19.4175	0.94708	0.0:1.0:0.0:0.0	.	225;225;341	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	L	341;341;225	ENSP00000334538:S341L;ENSP00000370305:S225L	ENSP00000334538:S341L	S	+	2	0	SREK1	65501655	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.019000	0.70818	2.582000	0.87167	0.585000	0.79938	TCA	SREK1	-	NULL		0.353	SREK1-002	KNOWN	basic|CCDS	protein_coding	SREK1	HGNC	protein_coding	OTTHUMT00000381118.1	C	NM_001077199		65465899	+1	no_errors	ENST00000334121	ensembl	human	known	70_37	missense	SNP	1.000	T
SRM	6723	genome.wustl.edu	37	1	11116762	11116762	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:11116762G>A	ENST00000376957.2	-	4	514	c.434C>T	c.(433-435)tCt>tTt	p.S145F		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	145	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CTTCGAGCTAGAGTAGCCAAT	0.557																																																	0													97.0	85.0	89.0					1																	11116762		2203	4300	6503	SO:0001583	missense	6723			BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.434C>T	1.37:g.11116762G>A	ENSP00000366156:p.Ser145Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKP9|Q15511	Missense_Mutation	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	p.S145F	ENST00000376957.2	37	c.434	CCDS125.1	1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846907	0.51164	.	.	ENSG00000116649	ENST00000376957	T	0.78003	-1.14	5.35	5.35	0.76521	.	0.107611	0.64402	D	0.000004	T	0.75932	0.3917	L	0.55481	1.735	0.53688	D	0.999976	B	0.18863	0.031	B	0.16722	0.016	T	0.72414	-0.4301	10	0.56958	D	0.05	.	18.4201	0.90587	0.0:0.0:1.0:0.0	.	145	P19623	SPEE_HUMAN	F	145	ENSP00000366156:S145F	ENSP00000366156:S145F	S	-	2	0	SRM	11039349	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.796000	0.62496	2.663000	0.90544	0.561000	0.74099	TCT	SRM	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase		0.557	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRM	HGNC	protein_coding	OTTHUMT00000006056.1	G	NM_003132		11116762	-1	no_errors	ENST00000376957	ensembl	human	known	70_37	missense	SNP	1.000	A
SSH2	85464	genome.wustl.edu	37	17	28022510	28022510	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:28022510G>A	ENST00000269033.3	-	4	394	c.243C>T	c.(241-243)ttC>ttT	p.F81F	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.F108F|SSH2_ENST00000324677.7_5'UTR	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	81					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGAGTAAAATGAACATTGCTT	0.388																																																	0													184.0	152.0	163.0					17																	28022510		2203	4300	6503	SO:0001819	synonymous_variant	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.243C>T	17.37:g.28022510G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.F81	ENST00000269033.3	37	c.243	CCDS11253.1	17																																																																																			SSH2	-	NULL		0.388	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	G	NM_033389		28022510	-1	no_errors	ENST00000269033	ensembl	human	known	70_37	silent	SNP	1.000	A
STAB1	23166	genome.wustl.edu	37	3	52538552	52538552	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:52538552C>G	ENST00000321725.6	+	11	1302	c.1226C>G	c.(1225-1227)tCc>tGc	p.S409C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	409	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTTCTCCTCCAGGACCATG	0.647																																																	0													81.0	78.0	79.0					3																	52538552		2203	4299	6502	SO:0001583	missense	23166			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1226C>G	3.37:g.52538552C>G	ENSP00000312946:p.Ser409Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.S409C	ENST00000321725.6	37	c.1226	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027390	0.54683	.	.	ENSG00000010327	ENST00000321725	T	0.72835	-0.69	4.6	3.65	0.41850	FAS1 domain (4);	1.023870	0.07755	N	0.949213	T	0.79857	0.4518	M	0.65975	2.015	0.09310	N	1	P;D	0.67145	0.937;0.996	P;P	0.59288	0.716;0.855	T	0.65701	-0.6104	10	0.62326	D	0.03	.	10.1112	0.42563	0.0:0.7961:0.2039:0.0	.	409;409	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	C	409	ENSP00000312946:S409C	ENSP00000312946:S409C	S	+	2	0	STAB1	52513592	0.001000	0.12720	0.595000	0.28798	0.792000	0.44763	0.676000	0.25247	2.284000	0.76573	0.561000	0.74099	TCC	STAB1	-	superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain		0.647	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	C	NM_015136		52538552	+1	no_errors	ENST00000321725	ensembl	human	known	70_37	missense	SNP	0.218	G
ST3GAL6	10402	genome.wustl.edu	37	3	98475282	98475282	+	5'UTR	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:98475282C>T	ENST00000394162.1	+	0	354				ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000483910.1_Intron|ST3GAL6_ENST00000265261.6_Intron	NM_001271145.1|NM_006100.3	NP_001258074.1|NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCCAGCAATTCAGCAGGCAGC	0.448																																																	0																																										SO:0001623	5_prime_UTR_variant	10402			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000394162.1:c.-114C>T	3.37:g.98475282C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCH2|B3KMI1|D3DN39|F8W6U0	RNA	SNP	-	NULL	ENST00000394162.1	37	NULL	CCDS2933.1	3																																																																																			ST3GAL6	-	-		0.448	ST3GAL6-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding		C	NM_006100		98475282	+1	no_errors	ENST00000465004	ensembl	human	known	70_37	rna	SNP	0.000	T
STAB2	55576	genome.wustl.edu	37	12	104140424	104140424	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:104140424G>A	ENST00000388887.2	+	58	6390	c.6186G>A	c.(6184-6186)aaG>aaA	p.K2062K	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCACCTGTAAGGAGAACAACA	0.483																																																	0													363.0	294.0	318.0					12																	104140424		2203	4300	6503	SO:0001819	synonymous_variant	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.6186G>A	12.37:g.104140424G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.K2062	ENST00000388887.2	37	c.6186	CCDS31888.1	12																																																																																			STAB2	-	smart_EGF_laminin,smart_EG-like_dom		0.483	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	G			104140424	+1	no_errors	ENST00000388887	ensembl	human	known	70_37	silent	SNP	0.981	A
STAG1	10274	genome.wustl.edu	37	3	136305745	136305745	+	Intron	SNP	G	G	C	rs542886393		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:136305745G>C	ENST00000383202.2	-	4	554				STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Intron|STAG1_ENST00000480733.1_Intron|RNY4P4_ENST00000363973.1_RNA	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1						chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ttccaaccaagtgaatgcaaa	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		18088	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.297+17405C>G	3.37:g.136305745G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O00539|Q6P275	Missense_Mutation	SNP	NULL	p.H107Q	ENST00000383202.2	37	c.321	CCDS3090.1	3																																																																																			STAG1	-	NULL		0.433	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	G	NM_005862		136305745	-1	no_errors	ENST00000487065	ensembl	human	known	70_37	missense	SNP	0.000	C
STARD13	90627	genome.wustl.edu	37	13	33703335	33703335	+	Silent	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr13:33703335G>C	ENST00000336934.5	-	5	1595	c.1479C>G	c.(1477-1479)gtC>gtG	p.V493V	STARD13_ENST00000255486.4_Silent_p.V485V|STARD13_ENST00000399365.3_Silent_p.V375V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	493					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGAGCCCATTGACATGCTGCA	0.483																																																	0													145.0	127.0	133.0					13																	33703335		2203	4300	6503	SO:0001819	synonymous_variant	90627			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1479C>G	13.37:g.33703335G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.V493	ENST00000336934.5	37	c.1479	CCDS9348.1	13																																																																																			STARD13	-	NULL		0.483	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	G	NM_001243466		33703335	-1	no_errors	ENST00000336934	ensembl	human	known	70_37	silent	SNP	0.995	C
STAT3	6774	genome.wustl.edu	37	17	40467764	40467764	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:40467764C>G	ENST00000264657.5	-	24	2624	c.2312G>C	c.(2311-2313)tGa>tCa	p.*771S	STAT3_ENST00000389272.3_Nonstop_Mutation_p.*673S|STAT3_ENST00000588969.1_Nonstop_Mutation_p.*771S|STAT3_ENST00000585517.1_3'UTR|STAT3_ENST00000404395.3_Nonstop_Mutation_p.*770S	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	0					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTCAGCTCCTCACATGGGGGA	0.547									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								0													106.0	94.0	98.0					17																	40467764		2203	4300	6503	SO:0001578	stop_lost	6774	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.2312G>C	17.37:g.40467764C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7B8|K7ENL3|O14916|Q9BW54	Nonstop_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,pfscan_SH2	p.*771S	ENST00000264657.5	37	c.2312	CCDS32656.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327316	0.81690	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	.	.	.	S	771;673;770	.	.	X	-	2	2	STAT3	37721290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.791000	0.69045	2.826000	0.97356	0.655000	0.94253	TGA	STAT3	-	NULL		0.547	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	C	NM_139276, NM_003150		40467764	-1	no_errors	ENST00000264657	ensembl	human	known	70_37	nonstop	SNP	1.000	G
STK39	27347	genome.wustl.edu	37	2	169023878	169023878	+	Missense_Mutation	SNP	C	C	A	rs199693195		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:169023878C>A	ENST00000355999.4	-	3	1066	c.361G>T	c.(361-363)Gta>Tta	p.V121L		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TAGGTCACTACGTTGGGATGG	0.378																																																	0													110.0	104.0	106.0					2																	169023878		1975	4187	6162	SO:0001583	missense	27347			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.361G>T	2.37:g.169023878C>A	ENSP00000348278:p.Val121Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V121L	ENST00000355999.4	37	c.361	CCDS42770.1	2	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484686	0.63962	.	.	ENSG00000198648	ENST00000355999	T	0.22539	1.95	5.91	4.07	0.47477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.245511	0.41712	D	0.000836	T	0.19127	0.0459	N	0.25890	0.77	0.52099	D	0.999943	P	0.45044	0.849	P	0.47402	0.546	T	0.01702	-1.1292	10	0.49607	T	0.09	-12.8504	8.6246	0.33881	0.0:0.7026:0.0:0.2974	.	121	Q9UEW8	STK39_HUMAN	L	121	ENSP00000348278:V121L	ENSP00000348278:V121L	V	-	1	0	STK39	168732124	0.992000	0.36948	0.998000	0.56505	0.965000	0.64279	1.362000	0.34148	0.782000	0.33613	0.655000	0.94253	GTA	STK39	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.378	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK39	HGNC	protein_coding	OTTHUMT00000258112.2	C	NM_013233		169023878	-1	no_errors	ENST00000355999	ensembl	human	known	70_37	missense	SNP	0.977	A
SYNE2	23224	genome.wustl.edu	37	14	64532300	64532300	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr14:64532300G>C	ENST00000344113.4	+	51	10575	c.10363G>C	c.(10363-10365)Gaa>Caa	p.E3455Q	SYNE2_ENST00000555002.1_Missense_Mutation_p.E89Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.E3455Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3488Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3455					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGTTTGCTGGAAGCTGCTAA	0.443																																																	0													170.0	169.0	169.0					14																	64532300		1981	4173	6154	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10363G>C	14.37:g.64532300G>C	ENSP00000341781:p.Glu3455Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E3455Q	ENST00000344113.4	37	c.10363	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889237	0.52014	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002	T;T;T;T	0.50277	1.29;0.75;1.29;4.09	5.52	4.62	0.57501	.	0.094596	0.45606	D	0.000344	T	0.38532	0.1044	L	0.34521	1.04	0.80722	D	1	P;P	0.40332	0.59;0.713	B;B	0.41571	0.197;0.36	T	0.16482	-1.0401	10	0.34782	T	0.22	.	10.9365	0.47249	0.0703:0.1315:0.7982:0.0	.	3455;3455	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Q	3455;3455;3488;3488;89	ENSP00000350719:E3455Q;ENSP00000341781:E3455Q;ENSP00000452570:E3488Q;ENSP00000450831:E89Q	ENSP00000261678:E3488Q	E	+	1	0	SYNE2	63602053	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.164000	0.50770	1.453000	0.47775	0.585000	0.79938	GAA	SYNE2	-	NULL		0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64532300	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	C
TADA2A	6871	genome.wustl.edu	37	17	35822181	35822181	+	Splice_Site	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:35822181G>C	ENST00000394395.2	+	10	841		c.e10-1		TADA2A_ENST00000591992.1_Splice_Site|TADA2A_ENST00000225396.6_Splice_Site|TADA2A_ENST00000417170.1_Splice_Site|TADA2A_ENST00000586023.1_Splice_Site	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTTCATTCTAGAATTATAAGA	0.269																																																	0													54.0	60.0	58.0					17																	35822181		2199	4296	6495	SO:0001630	splice_region_variant	6871			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.669-1G>C	17.37:g.35822181G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Splice_Site	SNP	-	e9-1	ENST00000394395.2	37	c.669-1	CCDS11319.1	17	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457858	0.84317	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396;ENST00000417170	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8506	0.96738	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TADA2A	32896294	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.874000	0.92363	2.686000	0.91538	0.655000	0.94253	.	TADA2A	-	-		0.269	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2A	HGNC	protein_coding	OTTHUMT00000256677.3	G	NM_001488	Intron	35822181	+1	no_errors	ENST00000225396	ensembl	human	known	70_37	splice_site	SNP	1.000	C
TAF6L	10629	genome.wustl.edu	37	11	62554156	62554156	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:62554156C>T	ENST00000294168.3	+	11	1458	c.1257C>T	c.(1255-1257)ctC>ctT	p.L419L	TMEM179B_ENST00000533861.1_5'Flank|RP11-727F15.12_ENST00000601484.1_RNA|TMEM179B_ENST00000333449.4_5'Flank|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	419					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GGTCCGGCCTCCCGCTGCCGC	0.687											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14.0	17.0	16.0					11																	62554156		2184	4273	6457	SO:0001819	synonymous_variant	10629			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1257C>T	11.37:g.62554156C>T		Somatic	1062	WXS	Illumina HiSeq	Phase_IV	B2RAT0|Q96HA6	Silent	SNP	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.L419	ENST00000294168.3	37	c.1257	CCDS8035.1	11																																																																																			TAF6L	-	NULL		0.687	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1	C	NM_006473		62554156	+1	no_errors	ENST00000294168	ensembl	human	known	70_37	silent	SNP	0.095	T
TBL1X	6907	genome.wustl.edu	37	X	9673058	9673058	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:9673058G>C	ENST00000217964.7	+	13	1780	c.1140G>C	c.(1138-1140)caG>caC	p.Q380H	TBL1X_ENST00000407597.2_Missense_Mutation_p.Q380H|TBL1X_ENST00000536365.1_Missense_Mutation_p.Q329H|TBL1X_ENST00000380961.1_Missense_Mutation_p.Q329H|TBL1X_ENST00000424279.1_Missense_Mutation_p.Q329H	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	380					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TGGACTGGCAGAACAACACGA	0.532																																																	0													232.0	136.0	169.0					X																	9673058		2203	4300	6503	SO:0001583	missense	6907			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1140G>C	X.37:g.9673058G>C	ENSP00000217964:p.Gln380His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q380H	ENST00000217964.7	37	c.1140	CCDS14133.1	X	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718048	0.48622	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	3.75	2.87	0.33458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	L	0.39085	1.19	0.58432	D	0.999996	D;D	0.71674	0.998;0.985	D;D	0.70016	0.967;0.967	T	0.76506	-0.2934	10	0.51188	T	0.08	.	8.0025	0.30306	0.198:0.0:0.802:0.0	.	343;380	Q59F53;O60907	.;TBL1X_HUMAN	H	380;329;329;329;380	ENSP00000385988:Q380H;ENSP00000394097:Q329H;ENSP00000445317:Q329H;ENSP00000370348:Q329H;ENSP00000217964:Q380H	ENSP00000217964:Q380H	Q	+	3	2	TBL1X	9633058	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	3.142000	0.50601	0.555000	0.29079	0.600000	0.82982	CAG	TBL1X	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.532	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	TBL1X	HGNC	protein_coding	OTTHUMT00000055709.1	G	NM_005647		9673058	+1	no_errors	ENST00000217964	ensembl	human	known	70_37	missense	SNP	1.000	C
TBL1XR1	79718	genome.wustl.edu	37	3	176755911	176755911	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:176755911G>A	ENST00000430069.1	-	12	1356	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.S366F			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	366					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTCAGAACAGGAGGCCAAGAG	0.388																																																	0													94.0	90.0	91.0					3																	176755911		1894	4111	6005	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1097C>T	3.37:g.176755911G>A	ENSP00000405574:p.Ser366Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S366F	ENST00000430069.1	37	c.1097	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.092417	0.94149	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.72725	-0.68;-0.68	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90854	0.7127	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94225	0.7471	10	0.87932	D	0	-3.1127	18.3369	0.90291	0.0:0.0:1.0:0.0	.	366	Q9BZK7	TBL1R_HUMAN	F	366;366;228	ENSP00000405574:S366F;ENSP00000413251:S366F	ENSP00000405574:S366F	S	-	2	0	TBL1XR1	178238605	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.768000	0.98965	2.581000	0.87130	0.585000	0.79938	TCC	TBL1XR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.388	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	G	NM_024665		176755911	-1	no_errors	ENST00000430069	ensembl	human	known	70_37	missense	SNP	1.000	A
TCEA3	6920	genome.wustl.edu	37	1	23724052	23724052	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:23724052G>C	ENST00000450454.2	-	7	756	c.650C>G	c.(649-651)tCa>tGa	p.S217*		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	217	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		TTCGATTTCTGATGCCATCTT	0.498																																																	0													103.0	98.0	99.0					1																	23724052		2014	4183	6197	SO:0001587	stop_gained	6920			AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.650C>G	1.37:g.23724052G>C	ENSP00000406293:p.Ser217*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2K7|Q5DR83	Nonsense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.S217*	ENST00000450454.2	37	c.650	CCDS44086.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.136401	0.97315	.	.	ENSG00000204219	ENST00000450454	.	.	.	5.36	5.36	0.76844	.	0.066341	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-0.9018	13.74	0.62842	0.0:0.1545:0.8455:0.0	.	.	.	.	X	217	.	ENSP00000406293:S217X	S	-	2	0	TCEA3	23596639	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.283000	0.72646	2.682000	0.91365	0.549000	0.68633	TCA	TCEA3	-	pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel,tigrfam_TFSII		0.498	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TCEA3	HGNC	protein_coding	OTTHUMT00000008911.2	G	NM_003196		23724052	-1	no_errors	ENST00000450454	ensembl	human	known	70_37	nonsense	SNP	1.000	C
TCF21	6943	genome.wustl.edu	37	6	134212874	134212874	+	Silent	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:134212874G>T	ENST00000367882.4	+	2	734	c.474G>T	c.(472-474)ggG>ggT	p.G158G	TCF21_ENST00000237316.3_Silent_p.G158G|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	158					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TGGTGGCCGGGAAACCCGAGA	0.632																																																	0													46.0	47.0	46.0					6																	134212874		2203	4300	6503	SO:0001819	synonymous_variant	6943			AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.474G>T	6.37:g.134212874G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P581|O43545|Q6ICV0|Q9BZ14	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.G158	ENST00000367882.4	37	c.474	CCDS5167.1	6																																																																																			TCF21	-	superfamily_HLH_dom		0.632	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF21	HGNC	protein_coding	OTTHUMT00000042292.1	G	NM_198392		134212874	+1	no_errors	ENST00000237316	ensembl	human	known	70_37	silent	SNP	0.982	T
TCF4	6925	genome.wustl.edu	37	18	52899837	52899837	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:52899837C>T	ENST00000356073.4	-	17	2163	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	TCF4_ENST00000561992.1_Missense_Mutation_p.E388K|TCF4_ENST00000543082.1_Missense_Mutation_p.E476K|TCF4_ENST00000537578.1_Missense_Mutation_p.E494K|TCF4_ENST00000354452.3_Missense_Mutation_p.E518K|TCF4_ENST00000568673.1_Missense_Mutation_p.E494K|TCF4_ENST00000537856.3_Missense_Mutation_p.E388K|TCF4_ENST00000567880.1_Missense_Mutation_p.E458K|TCF4_ENST00000564228.1_Missense_Mutation_p.E447K|TCF4_ENST00000565018.2_Missense_Mutation_p.E518K|TCF4_ENST00000561831.3_Missense_Mutation_p.E358K|TCF4_ENST00000570287.2_Missense_Mutation_p.E358K|TCF4_ENST00000457482.3_Missense_Mutation_p.E358K|TCF4_ENST00000398339.1_Missense_Mutation_p.E620K|TCF4_ENST00000570177.2_Missense_Mutation_p.E388K|TCF4_ENST00000568740.1_Missense_Mutation_p.E493K|TCF4_ENST00000564403.2_Missense_Mutation_p.E524K|TCF4_ENST00000566286.1_Missense_Mutation_p.E515K|TCF4_ENST00000540999.1_Missense_Mutation_p.E494K|TCF4_ENST00000564999.1_Missense_Mutation_p.E518K|TCF4_ENST00000566279.1_Missense_Mutation_p.E458K|TCF4_ENST00000544241.2_Missense_Mutation_p.E447K	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	518					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCATCACCCTCGTCATCGGAT	0.468																																																	0													129.0	110.0	117.0					18																	52899837		2203	4300	6503	SO:0001583	missense	6925			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1552G>A	18.37:g.52899837C>T	ENSP00000348374:p.Glu518Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E620K	ENST00000356073.4	37	c.1858	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745039	0.49151	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.18810	2.51;2.22;2.47;2.46;2.48;2.51;2.48;2.19;2.49	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	L	0.49640	1.575	0.80722	D	1	B;B;B;P;D;B;B;D;B	0.65815	0.038;0.172;0.065;0.919;0.992;0.038;0.038;0.995;0.371	B;B;B;B;P;B;B;D;B	0.68192	0.007;0.017;0.025;0.394;0.905;0.007;0.007;0.956;0.095	T	0.06826	-1.0805	10	0.02654	T	1	-15.4116	17.8399	0.88712	0.0:1.0:0.0:0.0	.	494;518;358;620;518;476;447;358;515	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	K	518;358;518;476;494;494;447;388;620	ENSP00000346440:E518K;ENSP00000409447:E358K;ENSP00000348374:E518K;ENSP00000439656:E476K;ENSP00000445202:E494K;ENSP00000440731:E494K;ENSP00000441562:E447K;ENSP00000439827:E388K;ENSP00000381382:E620K	ENSP00000346440:E518K	E	-	1	0	TCF4	51050835	0.998000	0.40836	0.998000	0.56505	0.952000	0.60782	3.845000	0.55880	2.510000	0.84645	0.467000	0.42956	GAG	TCF4	-	NULL		0.468	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	C	NM_003199		52899837	-1	no_errors	ENST00000398339	ensembl	human	known	70_37	missense	SNP	1.000	T
TCF7L2	6934	genome.wustl.edu	37	10	114710681	114710681	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:114710681C>G	ENST00000355995.4	+	1	673	c.166C>G	c.(166-168)Caa>Gaa	p.Q56E	TCF7L2_ENST00000534894.1_Missense_Mutation_p.Q56E|TCF7L2_ENST00000349937.2_Missense_Mutation_p.Q56E|TCF7L2_ENST00000536810.1_Missense_Mutation_p.Q56E|TCF7L2_ENST00000543371.1_Missense_Mutation_p.Q56E|TCF7L2_ENST00000369395.1_Missense_Mutation_p.Q56E|TCF7L2_ENST00000545257.1_Missense_Mutation_p.Q56E|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000369397.4_Missense_Mutation_p.Q56E|TCF7L2_ENST00000538897.1_Missense_Mutation_p.Q56E|TCF7L2_ENST00000352065.5_Missense_Mutation_p.Q56E|TCF7L2_ENST00000355717.4_Missense_Mutation_p.Q56E|TCF7L2_ENST00000542695.1_5'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	56					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGAAACGAATCAAAACAGCTC	0.498			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													42.0	46.0	44.0					10																	114710681		2203	4300	6503	SO:0001583	missense	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.166C>G	10.37:g.114710681C>G	ENSP00000348274:p.Gln56Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.Q56E	ENST00000355995.4	37	c.166		10	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063884	0.36373	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395;ENST00000346198	D;D;D;D;D;D;D;D;D	0.99167	-4.91;-4.9;-4.91;-4.93;-5.51;-5.51;-5.49;-4.91;-5.47	4.03	1.51	0.23008	.	0.184365	0.35555	U	0.003124	D	0.98566	0.9521	M	0.61703	1.905	0.80722	D	1	P;B;D;B;D;P;B;B;P;P;D;P;P	0.56521	0.828;0.222;0.969;0.045;0.969;0.706;0.123;0.39;0.946;0.562;0.976;0.73;0.656	P;B;P;B;P;P;B;B;D;P;P;B;B	0.67725	0.639;0.185;0.81;0.038;0.81;0.464;0.088;0.397;0.953;0.464;0.756;0.205;0.317	D	0.97171	0.9844	10	0.52906	T	0.07	-17.6081	6.7219	0.23334	0.1546:0.7225:0.0:0.1229	.	56;56;56;56;56;56;56;56;56;56;56;56;56	C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;.;.;.;.;.;.;.;.;.;.	E	56;56;56;56;56;56;56;56;56;56;56;3	ENSP00000348274:Q56E;ENSP00000440547:Q56E;ENSP00000444972:Q56E;ENSP00000446238:Q56E;ENSP00000347949:Q56E;ENSP00000446172:Q56E;ENSP00000443626:Q56E;ENSP00000358404:Q56E;ENSP00000344823:Q56E	ENSP00000345640:Q3E	Q	+	1	0	TCF7L2	114700671	1.000000	0.71417	0.993000	0.49108	0.939000	0.58152	3.958000	0.56737	-0.011000	0.14247	0.460000	0.39030	CAA	TCF7L2	-	pfam_CTNNB1-bd_N		0.498	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding		C	NM_030756		114710681	+1	no_errors	ENST00000355995	ensembl	human	known	70_37	missense	SNP	1.000	G
TCP1	6950	genome.wustl.edu	37	6	160210613	160210613	+	5'UTR	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:160210613G>A	ENST00000321394.7	-	0	168				MRPL18_ENST00000367034.4_5'Flank|TCP1_ENST00000392168.2_5'UTR|TCP1_ENST00000420894.2_5'Flank|TCP1_ENST00000546023.1_5'UTR|TCP1_ENST00000544255.1_5'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1						'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GAGCGTACCCGAGCGATGTCC	0.692																																																	0																																										SO:0001623	5_prime_UTR_variant	6950			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.-113C>T	6.37:g.160210613G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5B2|Q15556|Q5TCM3	RNA	SNP	-	NULL	ENST00000321394.7	37	NULL	CCDS5269.1	6																																																																																			TCP1	-	-		0.692	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP1	HGNC	protein_coding	OTTHUMT00000042917.2	G	NM_030752		160210613	-1	no_errors	ENST00000543532	ensembl	human	known	70_37	rna	SNP	0.001	A
TECPR1	25851	genome.wustl.edu	37	7	97857364	97857364	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:97857364C>T	ENST00000447648.2	-	17	2774	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	TECPR1_ENST00000542604.1_Silent_p.E755E|TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.E826E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	825					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCGCTGGTTCTCATAGATGT	0.592																																																	0													67.0	73.0	71.0					7																	97857364		2130	4234	6364	SO:0001819	synonymous_variant	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2475G>A	7.37:g.97857364C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.E826	ENST00000447648.2	37	c.2478	CCDS47648.1	7																																																																																			TECPR1	-	smart_Peroxin/Ferlin		0.592	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	C	NM_015395		97857364	-1	no_errors	ENST00000379795	ensembl	human	known	70_37	silent	SNP	1.000	T
TENM3	55714	genome.wustl.edu	37	4	183721066	183721066	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr4:183721066G>A	ENST00000511685.1	+	28	7785	c.7662G>A	c.(7660-7662)acG>acA	p.T2554T	TENM3_ENST00000406950.2_Silent_p.T2554T			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2554					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGACCACCACGCCCGAGAGCG	0.627																																																	0													33.0	39.0	37.0					4																	183721066		2185	4269	6454	SO:0001819	synonymous_variant	55714			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7662G>A	4.37:g.183721066G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.T2554	ENST00000511685.1	37	c.7662	CCDS47165.1	4																																																																																			TENM3	-	NULL		0.627	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	G			183721066	+1	no_errors	ENST00000406950	ensembl	human	known	70_37	silent	SNP	0.998	A
TFE3	7030	genome.wustl.edu	37	X	48887123	48887123	+	3'UTR	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:48887123C>G	ENST00000315869.7	-	0	2533				TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3						humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						ATCCTCACTTCTGTTCCTTGC	0.607			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																			Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													20.0	19.0	19.0					X																	48887123		876	1991	2867	SO:0001624	3_prime_UTR_variant	7030			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.*546G>C	X.37:g.48887123C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	RNA	SNP	-	NULL	ENST00000315869.7	37	NULL	CCDS14315.3	X																																																																																			TFE3	-	-		0.607	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	C	NM_006521		48887123	-1	no_errors	ENST00000478476	ensembl	human	known	70_37	rna	SNP	0.002	G
THOP1	7064	genome.wustl.edu	37	19	2794766	2794766	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:2794766G>C	ENST00000307741.6	+	3	437	c.234G>C	c.(232-234)caG>caC	p.Q78H	THOP1_ENST00000586677.1_5'Flank	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	78					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTAGTTCAGAGGAATATCC	0.577																																																	0													159.0	170.0	166.0					19																	2794766		2203	4300	6503	SO:0001583	missense	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.234G>C	19.37:g.2794766G>C	ENSP00000304467:p.Gln78His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSE2|Q9UCB3	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.Q78H	ENST00000307741.6	37	c.234	CCDS12095.1	19	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125136	0.37533	.	.	ENSG00000172009	ENST00000307741	T	0.08008	3.14	5.25	5.25	0.73442	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.056467	0.64402	D	0.000001	T	0.07593	0.0191	L	0.29908	0.895	0.80722	D	1	P	0.41947	0.766	B	0.38458	0.274	T	0.26224	-1.0109	10	0.44086	T	0.13	-60.2292	13.2976	0.60307	0.0:0.0:0.8409:0.1591	.	78	P52888	THOP1_HUMAN	H	78	ENSP00000304467:Q78H	ENSP00000304467:Q78H	Q	+	3	2	THOP1	2745766	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.821000	0.48065	2.451000	0.82905	0.561000	0.74099	CAG	THOP1	-	NULL		0.577	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	G			2794766	+1	no_errors	ENST00000307741	ensembl	human	known	70_37	missense	SNP	1.000	C
TIGD3	220359	genome.wustl.edu	37	11	65124381	65124381	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr11:65124381G>A	ENST00000309880.5	+	2	1309	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	368						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GCTGGCTCCCGGCAAAACGCC	0.632																																																	0													49.0	55.0	53.0					11																	65124381		2201	4296	6497	SO:0001583	missense	220359				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.1102G>A	11.37:g.65124381G>A	ENSP00000308354:p.Gly368Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.G368S	ENST00000309880.5	37	c.1102	CCDS8101.1	11	.	.	.	.	.	.	.	.	.	.	G	4.224	0.040371	0.08148	.	.	ENSG00000173825	ENST00000309880	T	0.16743	2.32	3.7	-0.893	0.10567	.	.	.	.	.	T	0.07548	0.0190	L	0.27053	0.805	0.09310	N	1	B	0.20550	0.046	B	0.06405	0.002	T	0.40156	-0.9578	9	0.07990	T	0.79	-2.3762	1.7385	0.02947	0.1122:0.1706:0.3102:0.4071	.	368	Q6B0B8	TIGD3_HUMAN	S	368	ENSP00000308354:G368S	ENSP00000308354:G368S	G	+	1	0	TIGD3	64880957	0.000000	0.05858	0.066000	0.19879	0.587000	0.36485	-0.467000	0.06664	-0.021000	0.14009	0.456000	0.33151	GGC	TIGD3	-	NULL		0.632	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1	G	NM_145719		65124381	+1	no_errors	ENST00000309880	ensembl	human	known	70_37	missense	SNP	0.058	A
TMC6	11322	genome.wustl.edu	37	17	76116778	76116778	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:76116778G>A	ENST00000590602.1	-	13	1830	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	TMC6_ENST00000589553.1_3'UTR|TMC6_ENST00000322933.4_Intron|TMC6_ENST00000591436.1_Intron|TMC6_ENST00000322914.3_Silent_p.F557F|TMC6_ENST00000392467.3_Silent_p.F557F|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000306591.7_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	557					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACATGAGGACGAAGTCCATCA	0.632																																																	0													166.0	158.0	161.0					17																	76116778		2203	4300	6503	SO:0001819	synonymous_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1671C>T	17.37:g.76116778G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	pfam_TMC	p.F557	ENST00000590602.1	37	c.1671	CCDS32748.1	17																																																																																			TMC6	-	pfam_TMC		0.632	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	G			76116778	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	silent	SNP	0.856	A
TMEM161B	153396	genome.wustl.edu	37	5	87564617	87564617	+	5'UTR	SNP	G	G	C	rs373539199	byFrequency	TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:87564617G>C	ENST00000296595.6	-	0	48				TMEM161B-AS1_ENST00000513011.2_RNA|TMEM161B-AS1_ENST00000504769.1_RNA|TMEM161B-AS1_ENST00000510087.1_RNA|TMEM161B-AS1_ENST00000506584.1_RNA|TMEM161B_ENST00000509387.1_5'UTR|TMEM161B-AS1_ENST00000501715.2_RNA|TMEM161B_ENST00000514135.1_5'UTR|TMEM161B-AS1_ENST00000512724.1_RNA|TMEM161B_ENST00000512429.1_5'UTR|TMEM161B-AS1_ENST00000504922.1_RNA|TMEM161B-AS1_ENST00000501869.2_RNA|TMEM161B-AS1_ENST00000504636.1_RNA|TMEM161B-AS1_ENST00000496733.2_RNA|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B-AS1_ENST00000507736.1_RNA	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B							integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CCCGGTCCTTGAGCCGAGAGA	0.612																																																	0													60.0	60.0	60.0					5																	87564617		692	1591	2283	SO:0001623	5_prime_UTR_variant	153396			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.-77C>G	5.37:g.87564617G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5CZH7|Q6UWQ6	RNA	SNP	-	NULL	ENST00000296595.6	37	NULL	CCDS4065.1	5																																																																																			TMEM161B	-	-		0.612	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161B	HGNC	protein_coding	OTTHUMT00000254094.1	G	NM_153354		87564617	-1	no_errors	ENST00000503194	ensembl	human	known	70_37	rna	SNP	0.006	C
TNFAIP6	7130	genome.wustl.edu	37	2	152226605	152226605	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:152226605G>A	ENST00000243347.3	+	4	541	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	MIR4773-1_ENST00000585225.1_RNA|RN7SL124P_ENST00000498656.2_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	156	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AAATGAGTACGAAGATAACCA	0.388																																																	0													153.0	153.0	153.0					2																	152226605		2203	4300	6503	SO:0001583	missense	7130				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.466G>A	2.37:g.152226605G>A	ENSP00000243347:p.Glu156Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TI7|Q8WWI9	Missense_Mutation	SNP	pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link	p.E156K	ENST00000243347.3	37	c.466	CCDS2193.1	2	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466654	0.26335	.	.	ENSG00000123610	ENST00000243347	T	0.28069	1.63	5.49	5.49	0.81192	CUB (5);	0.268996	0.41823	D	0.000805	T	0.26122	0.0637	N	0.17872	0.535	0.42002	D	0.990891	B	0.21309	0.054	B	0.23716	0.048	T	0.05338	-1.0891	10	0.54805	T	0.06	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	156	P98066	TSG6_HUMAN	K	156	ENSP00000243347:E156K	ENSP00000243347:E156K	E	+	1	0	TNFAIP6	151934851	1.000000	0.71417	0.961000	0.40146	0.863000	0.49368	4.803000	0.62546	2.563000	0.86464	0.555000	0.69702	GAA	TNFAIP6	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.388	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	G	NM_007115		152226605	+1	no_errors	ENST00000243347	ensembl	human	known	70_37	missense	SNP	1.000	A
TOP2B	7155	genome.wustl.edu	37	3	25666254	25666254	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:25666254G>C	ENST00000264331.4	-	19	2264	c.2265C>G	c.(2263-2265)ttC>ttG	p.F755L	TOP2B_ENST00000435706.2_Missense_Mutation_p.F750L	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	755					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CATTCCTCTTGAAACAGGTAA	0.373																																																	0													60.0	57.0	58.0					3																	25666254		1838	4095	5933	SO:0001583	missense	7155			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.2265C>G	3.37:g.25666254G>C	ENSP00000264331:p.Phe755Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.F755L	ENST00000264331.4	37	c.2265		3	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468627	0.43839	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.44881	0.91;0.91	5.44	0.431	0.16523	.	0.158317	0.56097	D	0.000022	T	0.26629	0.0651	L	0.33189	0.99	0.80722	D	1	B	0.09022	0.002	B	0.14578	0.011	T	0.04454	-1.0950	10	0.48119	T	0.1	-0.0577	5.5936	0.17315	0.4638:0.1395:0.3966:0.0	.	750	Q02880-2	.	L	750;755;750	ENSP00000396704:F750L;ENSP00000264331:F755L	ENSP00000264331:F755L	F	-	3	2	TOP2B	25641258	0.615000	0.27026	0.998000	0.56505	0.999000	0.98932	-0.116000	0.10724	0.075000	0.16796	0.650000	0.86243	TTC	TOP2B	-	pfam_Topo_IIA_A/C,superfamily_Topo_IIA_cen,smart_Topo_IIA_A/C		0.373	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		G			25666254	-1	no_errors	ENST00000264331	ensembl	human	known	70_37	missense	SNP	0.946	C
TP53	7157	genome.wustl.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000420246.2_Missense_Mutation_p.E285K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCTCTTCCTCTGTGCGCCGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	GRCh37	CM995136	TP53	M	rs112431538						91.0	78.0	82.0					17																	7577085		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E285K	ENST00000269305.4	37	c.853	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577085	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.995	T
TRA2A	29896	genome.wustl.edu	37	7	23561455	23561455	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:23561455G>A	ENST00000297071.4	-	2	257	c.41C>T	c.(40-42)tCt>tTt	p.S14F	TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	14					mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CTGAGAGCGAGACTCCTAACA	0.423																																					Pancreas(121;2137 2973 46590)												0													74.0	68.0	70.0					7																	23561455		2203	4300	6503	SO:0001583	missense	29896			U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.41C>T	7.37:g.23561455G>A	ENSP00000297071:p.Ser14Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUA9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S14F	ENST00000297071.4	37	c.41	CCDS5383.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086875	0.76642	.	.	ENSG00000164548	ENST00000297071	T	0.48522	0.81	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	L	0.54323	1.7	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.66842	-0.5821	10	0.87932	D	0	-7.4374	19.9068	0.97010	0.0:0.0:1.0:0.0	.	14	Q13595	TRA2A_HUMAN	F	14	ENSP00000297071:S14F	ENSP00000297071:S14F	S	-	2	0	TRA2A	23527980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.497000	0.97970	2.718000	0.92993	0.585000	0.79938	TCT	TRA2A	-	NULL		0.423	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2A	HGNC	protein_coding	OTTHUMT00000250257.1	G	NM_013293		23561455	-1	no_errors	ENST00000297071	ensembl	human	known	70_37	missense	SNP	1.000	A
TREML2	79865	genome.wustl.edu	37	6	41165887	41165887	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:41165887G>A	ENST00000483722.1	-	2	521	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	112	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGGGTACAGGATCCCAGAGG	0.622																																																	0													44.0	43.0	44.0					6																	41165887		2203	4297	6500	SO:0001819	synonymous_variant	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.336C>T	6.37:g.41165887G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.I112	ENST00000483722.1	37	c.336	CCDS4853.2	6																																																																																			TREML2	-	pfam_Ig_V-set		0.622	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML2	HGNC	protein_coding	OTTHUMT00000043756.3	G	NM_024807		41165887	-1	no_errors	ENST00000483722	ensembl	human	known	70_37	silent	SNP	0.041	A
TRIP10	9322	genome.wustl.edu	37	19	6743520	6743520	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:6743520G>C	ENST00000313244.9	+	6	459	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	TRIP10_ENST00000313285.8_Missense_Mutation_p.E142Q|TRIP10_ENST00000600428.1_Missense_Mutation_p.E34Q|TRIP10_ENST00000596758.1_Missense_Mutation_p.E142Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	142	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GCGTAAATTTGAGCGGGACTG	0.562																																																	0													55.0	55.0	55.0					19																	6743520		2203	4299	6502	SO:0001583	missense	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.424G>C	19.37:g.6743520G>C	ENSP00000320117:p.Glu142Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.E142Q	ENST00000313244.9	37	c.424		19	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814845	0.70912	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.45668	0.89;2.44	4.9	4.9	0.64082	.	0.062584	0.64402	D	0.000008	T	0.43277	0.1240	M	0.84082	2.675	0.58432	D	0.999999	B;P;B	0.37352	0.168;0.591;0.001	B;B;B	0.25506	0.034;0.061;0.001	T	0.55636	-0.8110	10	0.72032	D	0.01	-25.3997	13.5805	0.61901	0.0:0.0:1.0:0.0	.	142;142;142	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	Q	142	ENSP00000320493:E142Q;ENSP00000320117:E142Q	ENSP00000320117:E142Q	E	+	1	0	TRIP10	6694520	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.594000	0.90836	2.270000	0.75569	0.462000	0.41574	GAG	TRIP10	-	NULL		0.562	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	G			6743520	+1	no_errors	ENST00000313244	ensembl	human	known	70_37	missense	SNP	1.000	C
TRO	7216	genome.wustl.edu	37	X	54955746	54955746	+	Silent	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:54955746C>G	ENST00000173898.7	+	12	2701	c.2589C>G	c.(2587-2589)ctC>ctG	p.L863L	SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Silent_p.L394L|TRO_ENST00000375041.2_Silent_p.L466L|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	863	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTGGTGTACTCAGCACTAGCA	0.567																																																	0													45.0	42.0	43.0					X																	54955746		2161	4234	6395	SO:0001819	synonymous_variant	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2589C>G	X.37:g.54955746C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L863	ENST00000173898.7	37	c.2589	CCDS43959.1	X																																																																																			TRO	-	NULL		0.567	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	C	NM_016157		54955746	+1	no_errors	ENST00000173898	ensembl	human	known	70_37	silent	SNP	0.000	G
TSPAN31	6302	genome.wustl.edu	37	12	58140209	58140209	+	Intron	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:58140209G>A	ENST00000257910.3	+	4	586				CDK4_ENST00000551888.1_5'Flank|TSPAN31_ENST00000553221.1_Intron|TSPAN31_ENST00000547992.1_Intron|TSPAN31_ENST00000547472.1_Intron	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31						positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTTCCATGAGGATGATCTAGA	0.443																																																	0																																										SO:0001627	intron_variant	6302				CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.313-163G>A	12.37:g.58140209G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00577|Q53X76	RNA	SNP	-	NULL	ENST00000257910.3	37	NULL	CCDS8952.1	12																																																																																			TSPAN31	-	-		0.443	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN31	HGNC	protein_coding	OTTHUMT00000408778.1	G			58140209	+1	no_errors	ENST00000550528	ensembl	human	known	70_37	rna	SNP	0.003	A
TSPYL5	85453	genome.wustl.edu	37	8	98289400	98289400	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:98289400G>A	ENST00000322128.3	-	1	776	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	225					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CTGGAGAGCCGAAGGTAGGCC	0.602																																																	0													69.0	70.0	70.0					8																	98289400		2203	4300	6503	SO:0001583	missense	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.673C>T	8.37:g.98289400G>A	ENSP00000322802:p.Arg225Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.R225W	ENST00000322128.3	37	c.673	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599347	0.66332	.	.	ENSG00000180543	ENST00000322128	T	0.32272	1.46	4.18	3.25	0.37280	.	0.222677	0.22489	N	0.059399	T	0.50034	0.1592	M	0.71206	2.165	0.38956	D	0.958452	D	0.89917	1.0	D	0.77557	0.99	T	0.54761	-0.8245	10	0.87932	D	0	-14.3161	8.6559	0.34062	0.0:0.0:0.7093:0.2907	.	225	Q86VY4	TSYL5_HUMAN	W	225	ENSP00000322802:R225W	ENSP00000322802:R225W	R	-	1	2	TSPYL5	98358576	0.145000	0.22656	0.502000	0.27614	0.946000	0.59487	2.023000	0.41040	1.255000	0.44051	0.563000	0.77884	CGG	TSPYL5	-	pfam_NAP_family		0.602	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	G	NM_033512		98289400	-1	no_errors	ENST00000322128	ensembl	human	known	70_37	missense	SNP	0.678	A
TTC28	23331	genome.wustl.edu	37	22	28378302	28378302	+	Silent	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr22:28378302G>T	ENST00000397906.2	-	23	7494	c.7353C>A	c.(7351-7353)ccC>ccA	p.P2451P	TTC28-AS1_ENST00000425112.1_RNA|TTC28-AS1_ENST00000454996.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000430525.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000430853.1_RNA|TTC28-AS1_ENST00000419253.1_RNA|TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000452612.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	2451					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						GGGCTGTGGCGGGAGGGCCGG	0.617																																																	0													9.0	16.0	14.0					22																	28378302		685	1587	2272	SO:0001819	synonymous_variant	23331			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.7353C>A	22.37:g.28378302G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P2451	ENST00000397906.2	37	c.7353	CCDS46678.1	22																																																																																			TTC28	-	NULL		0.617	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	G	XM_929318		28378302	-1	no_errors	ENST00000397906	ensembl	human	novel	70_37	silent	SNP	0.008	T
TTL	150465	genome.wustl.edu	37	2	113251762	113251762	+	Missense_Mutation	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:113251762G>T	ENST00000233336.6	+	3	470	c.279G>T	c.(277-279)tgG>tgT	p.W93C		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	93	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		CCTGCACATGGTTCCCTGAAT	0.478			T	ETV6	ALL																																			Dom	yes		2	2q13	150465	tubulin tyrosine ligase		L	0													83.0	70.0	75.0					2																	113251762		2203	4300	6503	SO:0001583	missense	150465				CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.279G>T	2.37:g.113251762G>T	ENSP00000233336:p.Trp93Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q585T3|Q7Z302|Q8N426	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.W93C	ENST00000233336.6	37	c.279	CCDS2096.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416230	0.83449	.	.	ENSG00000114999	ENST00000233336	T	0.05513	3.43	5.67	5.67	0.87782	.	0.155416	0.64402	D	0.000011	T	0.23133	0.0559	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.00015	-1.2391	10	0.45353	T	0.12	.	18.9077	0.92469	0.0:0.0:1.0:0.0	.	93	Q8NG68	TTL_HUMAN	C	93	ENSP00000233336:W93C	ENSP00000233336:W93C	W	+	3	0	TTL	112968233	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.131000	0.94446	2.838000	0.97847	0.561000	0.74099	TGG	TTL	-	pfam_Tub_tyr_ligase		0.478	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTL	HGNC	protein_coding	OTTHUMT00000254085.2	G	NM_153712		113251762	+1	no_errors	ENST00000233336	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179408347	179408347	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:179408347G>C	ENST00000591111.1	-	297	91654	c.91430C>G	c.(91429-91431)tCa>tGa	p.S30477*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S23053*|TTN_ENST00000589042.1_Nonsense_Mutation_p.S32118*|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S29550*|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S23178*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S23245*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30477	Fibronectin type-III 122. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAATCTCTTGATACTTCCTT	0.393																																																	0													44.0	39.0	41.0					2																	179408347		1864	4102	5966	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91430C>G	2.37:g.179408347G>C	ENSP00000465570:p.Ser30477*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S29550*	ENST00000591111.1	37	c.88649		2	.	.	.	.	.	.	.	.	.	.	G	68	105.495268	0.99998	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	.	.	.	X	29550;23053;23245;23178;23050	.	ENSP00000340554:S23245X	S	-	2	0	TTN	179116593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	TCA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179408347	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	1.000	C
TUBA1B	10376	genome.wustl.edu	37	12	49522590	49522590	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:49522590G>A	ENST00000336023.5	-	4	601	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RP11-386G11.10_ENST00000551496.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	169					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGTAAATGGAGAACTCCAGCT	0.532																																																	0													45.0	62.0	56.0					12																	49522590		2203	4298	6501	SO:0001819	synonymous_variant	10376			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"""Tubulins"""	18809	protein-coding gene	gene with protein product	"""tubulin, alpha, ubiquitous"""	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.507C>T	12.37:g.49522590G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P04687|P05209|Q27I68|Q8WU19	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.F169	ENST00000336023.5	37	c.507	CCDS31792.1	12																																																																																			TUBA1B	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin		0.532	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1B	HGNC	protein_coding	OTTHUMT00000409005.1	G	NM_006082		49522590	-1	no_errors	ENST00000336023	ensembl	human	known	70_37	silent	SNP	1.000	A
UACA	55075	genome.wustl.edu	37	15	70960493	70960493	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr15:70960493G>A	ENST00000322954.6	-	16	2715	c.2530C>T	c.(2530-2532)Ctc>Ttc	p.L844F	UACA_ENST00000539319.1_Missense_Mutation_p.L735F|UACA_ENST00000560441.1_Missense_Mutation_p.L829F|UACA_ENST00000379983.2_Missense_Mutation_p.L831F	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	844					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCAGATGTGAGAGCGTGTATT	0.358																																																	0													133.0	128.0	130.0					15																	70960493		2198	4298	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2530C>T	15.37:g.70960493G>A	ENSP00000314556:p.Leu844Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.L844F	ENST00000322954.6	37	c.2530	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974965	0.34848	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.79247	-1.25;-1.25;-1.25	5.65	4.69	0.59074	.	0.107329	0.41712	D	0.000824	D	0.85687	0.5754	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.65815	0.995;0.991;0.995;0.995	D;P;P;D	0.67382	0.951;0.894;0.86;0.934	D	0.86633	0.1887	10	0.72032	D	0.01	-9.4665	16.5626	0.84570	0.0:0.0:0.8694:0.1306	.	735;844;844;831	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	F	844;831;735	ENSP00000314556:L844F;ENSP00000369319:L831F;ENSP00000438667:L735F	ENSP00000314556:L844F	L	-	1	0	UACA	68747547	1.000000	0.71417	0.344000	0.25628	0.012000	0.07955	3.439000	0.52878	2.824000	0.97209	0.655000	0.94253	CTC	UACA	-	superfamily_Prefoldin		0.358	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	G			70960493	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	missense	SNP	0.971	A
UBE2QL1	134111	genome.wustl.edu	37	5	6449072	6449072	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:6449072G>C	ENST00000399816.3	+	1	337	c.66G>C	c.(64-66)gaG>gaC	p.E22D		NM_001145161.2	NP_001138633.1	A1L167	U2QL1_HUMAN	ubiquitin-conjugating enzyme E2Q family-like 1	22					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			breast(1)|endometrium(1)	2						TGGTGGACGAGAGCCTGTTCG	0.612																																																	0													218.0	207.0	210.0					5																	6449072		692	1591	2283	SO:0001583	missense	134111			AK057805	CCDS47189.1	5p15.31	2010-02-17			ENSG00000215218	ENSG00000215218			37269	protein-coding gene	gene with protein product		615832					Standard	NM_001145161		Approved	FLJ25076	uc003jdp.4	A1L167	OTTHUMG00000161683	ENST00000399816.3:c.66G>C	5.37:g.6449072G>C	ENSP00000382713:p.Glu22Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E22D	ENST00000399816.3	37	c.66	CCDS47189.1	5	.	.	.	.	.	.	.	.	.	.	G	0.991	-0.693853	0.03303	.	.	ENSG00000215218	ENST00000399816	T	0.36340	1.26	4.17	-0.373	0.12516	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	.	.	.	.	T	0.11580	0.0282	N	0.01048	-1.04	0.34233	D	0.676784	B	0.02656	0.0	B	0.01281	0.0	T	0.43988	-0.9357	9	0.02654	T	1	.	16.3498	0.83199	0.0:0.6822:0.3178:0.0	.	22	A1L167	U2QL1_HUMAN	D	22	ENSP00000382713:E22D	ENSP00000382713:E22D	E	+	3	2	UBE2QL1	6502072	1.000000	0.71417	0.986000	0.45419	0.744000	0.42396	1.136000	0.31467	-0.074000	0.12820	0.478000	0.44815	GAG	UBE2QL1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.612	UBE2QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2QL1	HGNC	protein_coding	OTTHUMT00000365717.1	G	NM_001145161		6449072	+1	no_errors	ENST00000399816	ensembl	human	known	70_37	missense	SNP	0.996	C
UBE3B	89910	genome.wustl.edu	37	12	109947443	109947443	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:109947443C>T	ENST00000342494.3	+	16	2260	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	UBE3B_ENST00000434735.2_Silent_p.F555F|UBE3B_ENST00000535900.1_Intron|UBE3B_ENST00000280774.5_Silent_p.F555F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	555					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						AGATTTCATTCAAACTGGAAG	0.363																																																	0													147.0	138.0	141.0					12																	109947443		2203	4300	6503	SO:0001819	synonymous_variant	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1665C>T	12.37:g.109947443C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.F555	ENST00000342494.3	37	c.1665	CCDS9129.1	12																																																																																			UBE3B	-	NULL		0.363	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	C	NM_183415		109947443	+1	no_errors	ENST00000342494	ensembl	human	known	70_37	silent	SNP	1.000	T
UBE3B	89910	genome.wustl.edu	37	12	109947445	109947445	+	Missense_Mutation	SNP	A	A	T	rs536093921		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr12:109947445A>T	ENST00000342494.3	+	16	2262	c.1667A>T	c.(1666-1668)aAa>aTa	p.K556I	UBE3B_ENST00000434735.2_Missense_Mutation_p.K556I|UBE3B_ENST00000535900.1_Intron|UBE3B_ENST00000280774.5_Missense_Mutation_p.K556I	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	556					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						ATTTCATTCAAACTGGAAGAG	0.368																																																	0													148.0	138.0	141.0					12																	109947445		2203	4300	6503	SO:0001583	missense	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1667A>T	12.37:g.109947445A>T	ENSP00000340596:p.Lys556Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.K556I	ENST00000342494.3	37	c.1667	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951980	0.92660	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.48522	1.15;0.81;1.42;1.15	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	L	0.48642	1.525	0.80722	D	1	P	0.46457	0.878	P	0.45856	0.495	T	0.52823	-0.8524	10	0.72032	D	0.01	-20.9845	14.9879	0.71362	1.0:0.0:0.0:0.0	.	556	Q7Z3V4	UBE3B_HUMAN	I	556	ENSP00000391529:K556I;ENSP00000280774:K556I;ENSP00000443131:K556I;ENSP00000340596:K556I	ENSP00000280774:K556I	K	+	2	0	UBE3B	108431828	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.884000	0.92432	2.210000	0.71456	0.528000	0.53228	AAA	UBE3B	-	NULL		0.368	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	A	NM_183415		109947445	+1	no_errors	ENST00000342494	ensembl	human	known	70_37	missense	SNP	1.000	T
UHMK1	127933	genome.wustl.edu	37	1	162469974	162469974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:162469974G>A	ENST00000489294.1	+	2	656	c.498G>A	c.(496-498)tgG>tgA	p.W166*	UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Nonsense_Mutation_p.W92*|UHMK1_ENST00000538489.1_Nonsense_Mutation_p.W166*	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ACATATTGTGGAGTGCAGAGA	0.413																																																	0													111.0	99.0	103.0					1																	162469974		2203	4300	6503	SO:0001587	stop_gained	127933			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"""RNA binding motif (RRM) containing"""	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.498G>A	1.37:g.162469974G>A	ENSP00000420270:p.Trp166*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8K4|G3V1M1|Q96C22	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_cat_dom	p.W166*	ENST00000489294.1	37	c.498	CCDS1239.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.902460	0.97087	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-12.6239	16.9872	0.86342	0.0:0.0:1.0:0.0	.	.	.	.	X	92;166;166	.	ENSP00000420270:W166X	W	+	3	0	UHMK1	160736598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.887000	0.92456	2.854000	0.98071	0.655000	0.94253	TGG	UHMK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.413	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	HGNC	protein_coding	OTTHUMT00000076788.1	G	NM_175866		162469974	+1	no_errors	ENST00000489294	ensembl	human	known	70_37	nonsense	SNP	1.000	A
USP17L2	377630	genome.wustl.edu	37	8	11995989	11995990	+	Frame_Shift_Ins	INS	-	-	A	rs533374101		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:11995989_11995990insA	ENST00000333796.3	-	1	596_597	c.280_281insT	c.(280-282)tccfs	p.S94fs	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	94	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCACTGCAGGGAAGCGTTCTCG	0.569																																																	0																																										SO:0001589	frameshift_variant	377630			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.281dupT	8.37:g.11995991_11995991dupA	ENSP00000333329:p.Ser94fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Ins	INS	pfam_Peptidase_C19,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19	p.S94fs	ENST00000333796.3	37	c.281_280	CCDS43713.1	8																																																																																			USP17L2	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.569	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	-	NM_201402		11995990	-1	no_errors	ENST00000333796	ensembl	human	known	70_37	frame_shift_ins	INS	0.963:0.934	A
USP29	57663	genome.wustl.edu	37	19	57640514	57640514	+	Silent	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:57640514G>C	ENST00000254181.4	+	4	925	c.471G>C	c.(469-471)gtG>gtC	p.V157V	USP29_ENST00000598197.1_Silent_p.V157V	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	157					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAACACATGTGAAAAAGGGGA	0.368																																																	0													86.0	83.0	84.0					19																	57640514		2203	4300	6503	SO:0001819	synonymous_variant	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.471G>C	19.37:g.57640514G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.V157	ENST00000254181.4	37	c.471	CCDS33124.1	19																																																																																			USP29	-	NULL		0.368	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	G			57640514	+1	no_errors	ENST00000254181	ensembl	human	known	70_37	silent	SNP	0.000	C
USP51	158880	genome.wustl.edu	37	X	55513291	55513291	+	Silent	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:55513291G>C	ENST00000500968.3	-	2	2164	c.2082C>G	c.(2080-2082)ctC>ctG	p.L694L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	694	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CTTCACTGTAGAGTAAGTCCT	0.433																																																	0													88.0	74.0	79.0					X																	55513291		2203	4300	6503	SO:0001819	synonymous_variant	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.2082C>G	X.37:g.55513291G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IWJ8	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L694	ENST00000500968.3	37	c.2082	CCDS14370.1	X																																																																																			USP51	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.433	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	G	NM_201286		55513291	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	silent	SNP	0.997	C
VAC14	55697	genome.wustl.edu	37	16	70834762	70834762	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:70834762G>A	ENST00000261776.5	-	1	302	c.42C>T	c.(40-42)atC>atT	p.I14I	RP11-424M24.5_ENST00000574178.1_lincRNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	14					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGGCGCGCACGATGTTAGGCG	0.662																																																	0													66.0	58.0	60.0					16																	70834762		2198	4300	6498	SO:0001819	synonymous_variant	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.42C>T	16.37:g.70834762G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.I14	ENST00000261776.5	37	c.42	CCDS10896.1	16																																																																																			VAC14	-	superfamily_ARM-type_fold		0.662	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	G	NM_018052		70834762	-1	no_errors	ENST00000261776	ensembl	human	known	70_37	silent	SNP	1.000	A
VAX1	11023	genome.wustl.edu	37	10	118891763	118891763	+	IGR	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:118891763G>C	ENST00000369206.5	-	0	1723				VAX1_ENST00000277905.2_Missense_Mutation_p.S173C	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1						axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CCCACGCCGAGACTCATCATT	0.483																																																	0													54.0	67.0	62.0					10																	118891763		2203	4300	6503	SO:0001628	intergenic_variant	11023			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117		10.37:g.118891763G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AVW5|Q6ZSX0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S173C	ENST00000369206.5	37	c.518	CCDS44483.1	10	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645737	0.29246	.	.	ENSG00000148704	ENST00000277905	D	0.87029	-2.2	4.48	1.32	0.21799	.	.	.	.	.	T	0.77356	0.4118	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65389	-0.6180	8	0.66056	D	0.02	.	1.2031	0.01889	0.145:0.2257:0.3991:0.2302	.	173	Q5SQQ9-2	.	C	173	ENSP00000277905:S173C	ENSP00000277905:S173C	S	-	2	0	VAX1	118881753	0.023000	0.18921	0.000000	0.03702	0.288000	0.27193	0.309000	0.19332	0.153000	0.19213	0.655000	0.94253	TCT	VAX1	-	NULL		0.483	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	HGNC	protein_coding	OTTHUMT00000050559.3	G	XM_301242		118891763	-1	no_errors	ENST00000277905	ensembl	human	known	70_37	missense	SNP	0.000	C
VCAN	1462	genome.wustl.edu	37	5	82836731	82836731	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:82836731G>C	ENST00000265077.3	+	8	8474	c.7909G>C	c.(7909-7911)Gag>Cag	p.E2637Q	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1650Q|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2637	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGAAACATTTGAGGGCTCTGC	0.413																																																	0													104.0	104.0	104.0					5																	82836731		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7909G>C	5.37:g.82836731G>C	ENSP00000265077:p.Glu2637Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E2637Q	ENST00000265077.3	37	c.7909	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152200	0.38021	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.42513	0.97;0.97	5.91	5.91	0.95273	.	0.092748	0.47455	D	0.000236	T	0.62684	0.2448	M	0.69823	2.125	0.34522	D	0.708248	D;D	0.76494	0.999;0.998	D;P	0.76575	0.988;0.796	T	0.69124	-0.5228	10	0.36615	T	0.2	.	14.8002	0.69909	0.0:0.1437:0.8563:0.0	.	1650;2637	P13611-2;P13611	.;CSPG2_HUMAN	Q	2637;1650	ENSP00000265077:E2637Q;ENSP00000340062:E1650Q	ENSP00000265077:E2637Q	E	+	1	0	VCAN	82872487	0.989000	0.36119	0.462000	0.27118	0.283000	0.27025	2.701000	0.47094	2.804000	0.96469	0.462000	0.41574	GAG	VCAN	-	NULL		0.413	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82836731	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.278	C
VIT	5212	genome.wustl.edu	37	2	36986225	36986225	+	Intron	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:36986225G>C	ENST00000389975.3	+	6	789				VIT_ENST00000379241.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000457137.2_Missense_Mutation_p.E175Q|VIT_ENST00000379242.3_Intron|VIT_ENST00000401530.1_Intron	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TAAACCTTCTGAGTCCATGAA	0.468																																																	0													92.0	90.0	91.0					2																	36986225		2203	4300	6503	SO:0001627	intron_variant	5212			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.487+36G>C	2.37:g.36986225G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.E175Q	ENST00000389975.3	37	c.523	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	G	7.619	0.676348	0.14841	.	.	ENSG00000205221	ENST00000457137	D	0.90563	-2.69	4.97	4.07	0.47477	.	.	.	.	.	D	0.83663	0.5303	.	.	.	0.18873	N	0.999988	B	0.12013	0.005	B	0.10450	0.005	T	0.69128	-0.5227	7	.	.	.	.	11.502	0.50444	0.0:0.1815:0.8185:0.0	.	175	Q6UXI7-3	.	Q	175	ENSP00000393561:E175Q	.	E	+	1	0	VIT	36839729	0.000000	0.05858	0.013000	0.15412	0.232000	0.25224	-0.009000	0.12765	1.194000	0.43101	0.555000	0.69702	GAG	VIT	-	NULL		0.468	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		G			36986225	+1	no_errors	ENST00000457137	ensembl	human	known	70_37	missense	SNP	0.034	C
VN1R4	317703	genome.wustl.edu	37	19	53770598	53770598	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:53770598G>A	ENST00000311170.4	-	1	374	c.321C>T	c.(319-321)atC>atT	p.I107I	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	107					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.I107I(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGCTGACCGTGATCACCTGGA	0.507										HNSCC(26;0.072)																																							1	Substitution - coding silent(1)	ovary(1)											35.0	28.0	30.0					19																	53770598		2203	4300	6503	SO:0001819	synonymous_variant	317703			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.321C>T	19.37:g.53770598G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.I107	ENST00000311170.4	37	c.321	CCDS33099.1	19																																																																																			VN1R4	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R4	HGNC	protein_coding	OTTHUMT00000464287.1	G	NM_173857		53770598	-1	no_errors	ENST00000311170	ensembl	human	known	70_37	silent	SNP	0.191	A
VPS13D	55187	genome.wustl.edu	37	1	12359381	12359381	+	Silent	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:12359381G>A	ENST00000358136.3	+	25	6286	c.6156G>A	c.(6154-6156)ttG>ttA	p.L2052L	VPS13D_ENST00000356315.4_Silent_p.L2052L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGGGAAGTTGAAAGTCAAAA	0.423																																																	0													107.0	102.0	104.0					1																	12359381		2203	4300	6503	SO:0001819	synonymous_variant	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.6156G>A	1.37:g.12359381G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.L2052	ENST00000358136.3	37	c.6156	CCDS30588.1	1																																																																																			VPS13D	-	NULL		0.423	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12359381	+1	no_errors	ENST00000358136	ensembl	human	known	70_37	silent	SNP	1.000	A
VRK3	51231	genome.wustl.edu	37	19	50498170	50498170	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:50498170C>T	ENST00000599538.1	-	9	1435	c.771G>A	c.(769-771)ttG>ttA	p.L257L	VRK3_ENST00000443401.2_Silent_p.L26L|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594948.1_Silent_p.L257L|VRK3_ENST00000377011.2_Silent_p.L207L|VRK3_ENST00000316763.3_Silent_p.L257L|VRK3_ENST00000593919.1_Silent_p.L257L|VRK3_ENST00000601912.1_Silent_p.L207L|VRK3_ENST00000601341.1_Silent_p.L207L|VRK3_ENST00000594092.1_Silent_p.L257L			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TGGGTAACACCAAGAACCTGG	0.622																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)												0													47.0	39.0	41.0					19																	50498170		2203	4300	6503	SO:0001819	synonymous_variant	51231			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.771G>A	19.37:g.50498170C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	NULL	p.G207S	ENST00000599538.1	37	c.619	CCDS12791.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.326420	0.95708	.	.	ENSG00000105053	ENST00000424804	.	.	.	5.48	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.4659	9.7161	0.40276	0.0:0.9022:0.0:0.0978	.	.	.	.	X	235	.	ENSP00000402958:W235X	W	-	2	0	VRK3	55189982	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.549000	0.45803	1.433000	0.47394	0.655000	0.94253	TGG	VRK3	-	NULL		0.622	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	HGNC	protein_coding	OTTHUMT00000464815.1	C	NM_016440		50498170	-1	no_errors	ENST00000596121	ensembl	human	known	70_37	missense	SNP	1.000	T
WAC	51322	genome.wustl.edu	37	10	28827295	28827295	+	Intron	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:28827295G>C	ENST00000354911.4	+	3	435				WAC_ENST00000375664.4_Intron|WAC_ENST00000375646.1_Intron|WAC_ENST00000428935.1_Intron|WAC_ENST00000347934.4_Intron	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						cagatcacctgaggtcaggag	0.517																																																	0																																										SO:0001627	intron_variant	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.274+2609G>C	10.37:g.28827295G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	NULL	p.L81	ENST00000354911.4	37	c.243	CCDS7159.1	10																																																																																			WAC	-	NULL		0.517	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	G	NM_100264		28827295	+1	no_errors	ENST00000424883	ensembl	human	known	70_37	silent	SNP	0.023	C
WDR35	57539	genome.wustl.edu	37	2	20113420	20113420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr2:20113420C>A	ENST00000345530.3	-	28	3560	c.3445G>T	c.(3445-3447)Gag>Tag	p.E1149*	WDR35_ENST00000416055.2_Silent_p.L541L|WDR35_ENST00000281405.4_Nonsense_Mutation_p.E1138*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1149					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATTGATACTCAGTGATTGGG	0.448																																																	0													180.0	165.0	170.0					2																	20113420		2203	4300	6503	SO:0001587	stop_gained	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3445G>T	2.37:g.20113420C>A	ENSP00000314444:p.Glu1149*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVI5|Q4ZG01|Q8NE11	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1149*	ENST00000345530.3	37	c.3445	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.919848	0.99002	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-27.8158	19.0838	0.93194	0.0:1.0:0.0:0.0	.	.	.	.	X	1149;1138	.	ENSP00000281405:E1138X	E	-	1	0	WDR35	19976901	1.000000	0.71417	0.500000	0.27589	0.882000	0.50991	7.437000	0.80417	2.833000	0.97629	0.655000	0.94253	GAG	WDR35	-	pirsf_WD_repeat_p35		0.448	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	C	NM_020779		20113420	-1	no_errors	ENST00000345530	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WTAP	9589	genome.wustl.edu	37	6	160169397	160169397	+	Missense_Mutation	SNP	G	G	C			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr6:160169397G>C	ENST00000358372.4	+	6	2205	c.448G>C	c.(448-450)Gat>Cat	p.D150H	SOD2_ENST00000546087.1_Intron|WTAP_ENST00000337387.4_Missense_Mutation_p.D150H	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	150					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GTTTACGCCTGATAGGTAAAC	0.448																																																	0													78.0	74.0	75.0					6																	160169397		2203	4300	6503	SO:0001583	missense	9589			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.448G>C	6.37:g.160169397G>C	ENSP00000351141:p.Asp150His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	NULL	p.D150H	ENST00000358372.4	37	c.448	CCDS5266.1	6	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620771	0.66787	.	.	ENSG00000146457	ENST00000358372;ENST00000337387	T;T	0.56776	0.44;0.44	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.98;0.986	T	0.69165	-0.5217	10	0.87932	D	0	-4.1678	19.6107	0.95606	0.0:0.0:1.0:0.0	.	150;150	Q15007;Q5TCL9	FL2D_HUMAN;.	H	150	ENSP00000351141:D150H;ENSP00000336911:D150H	ENSP00000336911:D150H	D	+	1	0	WTAP	160089387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.774000	0.98992	2.648000	0.89879	0.655000	0.94253	GAT	WTAP	-	NULL		0.448	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTAP	HGNC	protein_coding	OTTHUMT00000042905.1	G	NM_152857		160169397	+1	no_errors	ENST00000358372	ensembl	human	known	70_37	missense	SNP	1.000	C
YTHDF3	253943	genome.wustl.edu	37	8	64122915	64122915	+	3'UTR	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr8:64122915C>T	ENST00000517371.1	+	0	1034				YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000539294.1_3'UTR|YTHDF3_ENST00000542911.2_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TGGTGGATTTCACCAGTTAAT	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	253943			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*651C>T	8.37:g.64122915C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-		0.338	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4	C	NM_152758		64122915	+1	no_errors	ENST00000517371	ensembl	human	known	70_37	rna	SNP	0.995	T
ZACN	353174	genome.wustl.edu	37	17	74078000	74078000	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:74078000C>T	ENST00000334586.5	+	8	1001	c.918C>T	c.(916-918)ctC>ctT	p.L306L	EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	306	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TGCTCTTCCTCAGCACCATAG	0.662																																																	0													65.0	53.0	57.0					17																	74078000		2203	4300	6503	SO:0001819	synonymous_variant	353174			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.918C>T	17.37:g.74078000C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM	p.L306	ENST00000334586.5	37	c.918	CCDS11740.2	17																																																																																			ZACN	-	superfamily_Neurotrans-gated_channel_TM		0.662	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZACN	HGNC	protein_coding	OTTHUMT00000347827.2	C	NM_180990		74078000	+1	no_errors	ENST00000334586	ensembl	human	known	70_37	silent	SNP	0.234	T
ZACN	353174	genome.wustl.edu	37	17	74078118	74078118	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr17:74078118C>T	ENST00000334586.5	+	8	1119	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	346					ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CCCAGGGCCTCATCCTGCTGA	0.697																																																	0													10.0	10.0	10.0					17																	74078118		2191	4285	6476	SO:0001583	missense	353174			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.1036C>T	17.37:g.74078118C>T	ENSP00000334854:p.His346Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TB29|Q6ZWK3|Q86YW4	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM	p.H346Y	ENST00000334586.5	37	c.1036	CCDS11740.2	17	.	.	.	.	.	.	.	.	.	.	C	8.325	0.825267	0.16749	.	.	ENSG00000186919	ENST00000334586	D	0.81579	-1.51	4.8	-9.6	0.00553	Neurotransmitter-gated ion-channel transmembrane domain (1);	2.819760	0.01094	N	0.005255	T	0.56046	0.1959	N	0.24115	0.695	0.09310	N	1	P	0.36144	0.539	B	0.25614	0.062	T	0.55655	-0.8107	10	0.11794	T	0.64	5.2129	5.3181	0.15866	0.1891:0.5517:0.1548:0.1044	.	346	Q401N2	ZACN_HUMAN	Y	346	ENSP00000334854:H346Y	ENSP00000334854:H346Y	H	+	1	0	ZACN	71589713	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.861000	0.04268	-1.968000	0.01006	-0.314000	0.08810	CAT	ZACN	-	superfamily_Neurotrans-gated_channel_TM		0.697	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZACN	HGNC	protein_coding	OTTHUMT00000347827.2	C	NM_180990		74078118	+1	no_errors	ENST00000334586	ensembl	human	known	70_37	missense	SNP	0.000	T
ZC3H12A	80149	genome.wustl.edu	37	1	37941335	37941335	+	Missense_Mutation	SNP	A	A	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:37941335A>G	ENST00000373087.6	+	2	354	c.238A>G	c.(238-240)Acg>Gcg	p.T80A	RP11-422J8.1_ENST00000424989.1_RNA	NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGACACCAACACGGTGCTGGG	0.642																																																	0													54.0	50.0	51.0					1																	37941335		2203	4300	6503	SO:0001583	missense	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.238A>G	1.37:g.37941335A>G	ENSP00000362179:p.Thr80Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.T80A	ENST00000373087.6	37	c.238	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.203387	0.38905	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.22336	1.96	4.8	2.41	0.29592	.	0.234074	0.43110	D	0.000608	T	0.15696	0.0378	L	0.54323	1.7	0.33017	D	0.528276	B	0.33212	0.402	B	0.26864	0.074	T	0.14254	-1.0479	10	0.49607	T	0.09	-18.6038	4.8672	0.13615	0.6349:0.0:0.0791:0.286	.	80	Q5D1E8	ZC12A_HUMAN	A	80	ENSP00000362179:T80A	ENSP00000362174:T80A	T	+	1	0	ZC3H12A	37713922	0.937000	0.31787	0.909000	0.35828	0.337000	0.28794	0.930000	0.28858	0.189000	0.20188	-1.535000	0.00915	ACG	ZC3H12A	-	NULL		0.642	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	A	NM_025079		37941335	+1	no_errors	ENST00000373082	ensembl	human	known	70_37	missense	SNP	0.984	G
ZDHHC12	84885	genome.wustl.edu	37	9	131486254	131486254	+	Intron	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:131486254C>A	ENST00000372663.4	-	1	113				ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Intron|RP11-545E17.3_ENST00000443631.1_RNA|ZDHHC12_ENST00000372667.5_Missense_Mutation_p.R40L	NM_032799.4	NP_116188	Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12						protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						GGTCCGGGGTCGCTCGGGGTC	0.667																																																	0													25.0	26.0	26.0					9																	131486254		2197	4298	6495	SO:0001627	intron_variant	84885			AK027430	CCDS6909.1	9q34.11	2008-02-05			ENSG00000160446	ENSG00000160446		"""Zinc fingers, DHHC-type"""	19159	protein-coding gene	gene with protein product							Standard	NM_032799		Approved	ZNF400, FLJ14524	uc004bvy.3	Q96GR4	OTTHUMG00000020756	ENST00000372663.4:c.100+18G>T	9.37:g.131486254C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH95|B2RE03|Q5T265|Q5T267|Q5T268|Q86VT5|Q96T09	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.R40L	ENST00000372663.4	37	c.119	CCDS6909.1	9	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119211	0.37436	.	.	ENSG00000160446	ENST00000372667	T	0.32988	1.43	4.2	-0.0505	0.13830	.	3.202590	0.01004	N	0.003720	T	0.16171	0.0389	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16630	-1.0396	7	0.10377	T	0.69	.	8.0848	0.30765	0.0:0.2595:0.5665:0.174	.	.	.	.	L	40	ENSP00000361752:R40L	ENSP00000361752:R40L	R	-	2	0	ZDHHC12	130526075	1.000000	0.71417	0.964000	0.40570	0.679000	0.39708	0.821000	0.27338	-0.197000	0.10350	-1.474000	0.01003	CGA	ZDHHC12	-	NULL		0.667	ZDHHC12-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC12	HGNC	protein_coding	OTTHUMT00000054484.1	C	NM_032799		131486254	-1	no_errors	ENST00000372667	ensembl	human	known	70_37	missense	SNP	0.493	A
ZBTB14	7541	genome.wustl.edu	37	18	5291062	5291062	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:5291062C>T	ENST00000357006.4	-	4	1483	c.1145G>A	c.(1144-1146)aGa>aAa	p.R382K	ZBTB14_ENST00000400143.3_Missense_Mutation_p.R382K	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	382					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CCCTCTGTGTCTTCTTTCATG	0.463																																																	0													198.0	160.0	173.0					18																	5291062		2203	4300	6503	SO:0001583	missense	7541			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1145G>A	18.37:g.5291062C>T	ENSP00000349503:p.Arg382Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00403|Q2TB80	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R382K	ENST00000357006.4	37	c.1145	CCDS11837.1	18	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324644	0.60634	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.07216	3.21;3.21	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	L	0.35487	1.065	0.58432	D	0.999992	P	0.36974	0.576	B	0.31245	0.126	T	0.39251	-0.9623	10	0.19147	T	0.46	-30.9004	20.053	0.97634	0.0:1.0:0.0:0.0	.	382	O43829	ZF161_HUMAN	K	382	ENSP00000349503:R382K;ENSP00000383009:R382K	ENSP00000349503:R382K	R	-	2	0	ZFP161	5281062	1.000000	0.71417	0.559000	0.28332	0.999000	0.98932	5.883000	0.69721	2.733000	0.93635	0.650000	0.86243	AGA	ZFP161	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP161	HGNC	protein_coding	OTTHUMT00000254425.1	C	NM_003409		5291062	-1	no_errors	ENST00000357006	ensembl	human	known	70_37	missense	SNP	1.000	T
ZMYM3	9203	genome.wustl.edu	37	X	70470478	70470478	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chrX:70470478G>A	ENST00000353904.2	-	5	1064	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	ZMYM3_ENST00000373984.3_Missense_Mutation_p.R295C|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R293C|ZMYM3_ENST00000373981.1_Missense_Mutation_p.R293C|ZMYM3_ENST00000373982.1_Missense_Mutation_p.R295C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R293C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R295C	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	293					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACACTTGAGCGTAGGGACATG	0.572																																																	0													48.0	37.0	41.0					X																	70470478		2203	4300	6503	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.877C>T	X.37:g.70470478G>A	ENSP00000343909:p.Arg293Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.R295C	ENST00000353904.2	37	c.883	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	22.3	4.277328	0.80580	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981	T;T;T;T;T;T;T	0.54866	1.34;0.8;1.34;1.34;1.39;0.65;0.55	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000010	T	0.60011	0.2236	N	0.24115	0.695	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.993;0.988;0.973	T	0.61496	-0.7051	10	0.40728	T	0.16	-12.7935	17.3214	0.87238	0.0:0.0:1.0:0.0	.	295;293;293;293	A6NL54;Q96E26;Q14202-2;Q14202	.;.;.;ZMYM3_HUMAN	C	293;293;293;295;295;295;293	ENSP00000322845:R293C;ENSP00000363110:R293C;ENSP00000343909:R293C;ENSP00000363096:R295C;ENSP00000363100:R295C;ENSP00000363094:R295C;ENSP00000363093:R293C	ENSP00000322845:R293C	R	-	1	0	ZMYM3	70387203	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	5.037000	0.64170	2.271000	0.75665	0.529000	0.55759	CGC	ZMYM3	-	NULL		0.572	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	G	NM_201599		70470478	-1	no_errors	ENST00000373988	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF236	7776	genome.wustl.edu	37	18	74587576	74587576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:74587576C>T	ENST00000253159.8	+	6	988	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q266*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	264					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q264*(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGCCTTCTCTCAGAAAGGGAA	0.527											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Nonsense(2)	lung(2)											117.0	119.0	118.0					18																	74587576		2021	4180	6201	SO:0001587	stop_gained	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.790C>T	18.37:g.74587576C>T	ENSP00000253159:p.Gln264*	Somatic	1154	WXS	Illumina HiSeq	Phase_IV	B2RTX9|Q9UL37	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q264*	ENST00000253159.8	37	c.790	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820175	0.90873	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.782	0.96420	0.0:1.0:0.0:0.0	.	.	.	.	X	264	.	ENSP00000253159:Q264X	Q	+	1	0	ZNF236	72716564	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	7.488000	0.81441	2.757000	0.94681	0.462000	0.41574	CAG	ZNF236	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.527	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	C			74587576	+1	no_errors	ENST00000253159	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZNF236	7776	genome.wustl.edu	37	18	74649142	74649142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:74649142C>A	ENST00000253159.8	+	26	4817	c.4619C>A	c.(4618-4620)tCa>tAa	p.S1540*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.S1542*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1540					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCCTTCCTTCAACAACACCG	0.532																																																	0													115.0	118.0	117.0					18																	74649142		2075	4202	6277	SO:0001587	stop_gained	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.4619C>A	18.37:g.74649142C>A	ENSP00000253159:p.Ser1540*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTX9|Q9UL37	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1540*	ENST00000253159.8	37	c.4619	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	43	10.371404	0.99393	.	.	ENSG00000130856	ENST00000253159	.	.	.	5.81	4.95	0.65309	.	0.416111	0.24630	N	0.036892	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.677	0.45792	0.0:0.8001:0.1309:0.069	.	.	.	.	X	1540	.	ENSP00000253159:S1540X	S	+	2	0	ZNF236	72778130	0.921000	0.31238	0.000000	0.03702	0.435000	0.31806	3.329000	0.52060	1.468000	0.48064	0.557000	0.71058	TCA	ZNF236	-	NULL		0.532	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	C			74649142	+1	no_errors	ENST00000253159	ensembl	human	known	70_37	nonsense	SNP	0.000	A
ZNF341	84905	genome.wustl.edu	37	20	32358057	32358057	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:32358057C>T	ENST00000375200.1	+	10	1946	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	ZNF341_ENST00000342427.2_Silent_p.L520L	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	527					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCACAGCCTCCTGCCACAGC	0.642																																																	0													92.0	67.0	76.0					20																	32358057		2203	4300	6503	SO:0001819	synonymous_variant	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1581C>T	20.37:g.32358057C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L527	ENST00000375200.1	37	c.1581		20																																																																																			ZNF341	-	NULL		0.642	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		C			32358057	+1	no_errors	ENST00000375200	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF445	353274	genome.wustl.edu	37	3	44488964	44488964	+	Missense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr3:44488964C>T	ENST00000396077.2	-	8	2546	c.2199G>A	c.(2197-2199)atG>atA	p.M733I	ZNF445_ENST00000425708.2_Missense_Mutation_p.M733I	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	733					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GTTTTCTTTTCATGGCATGCT	0.473																																																	0													97.0	100.0	99.0					3																	44488964		2203	4300	6503	SO:0001583	missense	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2199G>A	3.37:g.44488964C>T	ENSP00000379387:p.Met733Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.M733I	ENST00000396077.2	37	c.2199	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	c	1.834	-0.469195	0.04445	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.05258	3.47;3.47	3.49	-6.97	0.01616	Zinc finger, C2H2 (1);	1.590600	0.03363	N	0.197808	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35549	-0.9784	10	0.42905	T	0.14	.	5.9143	0.19045	0.1161:0.482:0.3103:0.0917	.	721;733	B7ZKX2;P59923	.;ZN445_HUMAN	I	733	ENSP00000413073:M733I;ENSP00000379387:M733I	ENSP00000379387:M733I	M	-	3	0	ZNF445	44463968	0.000000	0.05858	0.000000	0.03702	0.833000	0.47200	-1.734000	0.01848	-3.445000	0.00162	0.306000	0.20318	ATG	ZNF445	-	pfscan_Znf_C2H2		0.473	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	C	NM_181489		44488964	-1	no_errors	ENST00000396077	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF493	284443	genome.wustl.edu	37	19	21606431	21606431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:21606431G>T	ENST00000355504.4	+	2	852	c.586G>T	c.(586-588)Gaa>Taa	p.E196*	ZNF493_ENST00000392288.2_Nonsense_Mutation_p.E324*|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CTATAAATGTGAAGAATGTGG	0.338																																																	0													32.0	37.0	35.0					19																	21606431		2200	4294	6494	SO:0001587	stop_gained	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.586G>T	19.37:g.21606431G>T	ENSP00000347691:p.Glu196*	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E196*	ENST00000355504.4	37	c.586	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	14.21	2.466803	0.43839	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	.	.	.	0.985	-0.211	0.13172	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	0.2226	0.00170	0.2251:0.249:0.2748:0.2511	.	.	.	.	X	324;196	.	ENSP00000347691:E196X	E	+	1	0	ZNF493	21398271	0.000000	0.05858	0.217000	0.23759	0.213000	0.24496	-2.313000	0.01126	0.399000	0.25367	0.404000	0.27445	GAA	ZNF493	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	G	NM_175910		21606431	+1	no_errors	ENST00000355504	ensembl	human	known	70_37	nonsense	SNP	0.094	T
ZNF516	9658	genome.wustl.edu	37	18	74154300	74154300	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr18:74154300C>G	ENST00000443185.2	-	3	1028	c.711G>C	c.(709-711)gaG>gaC	p.E237D	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCTTGCCGTTCTCCACGCAGG	0.682																																																	0													12.0	15.0	14.0					18																	74154300		2068	4197	6265	SO:0001583	missense	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.711G>C	18.37:g.74154300C>G	ENSP00000394757:p.Glu237Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E237D	ENST00000443185.2	37	c.711		18	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027126	0.35797	.	.	ENSG00000101493	ENST00000443185	T	0.11277	2.79	3.87	2.99	0.34606	.	1.560830	0.03852	N	0.272452	T	0.22003	0.0530	.	.	.	0.34361	D	0.691001	D	0.63046	0.992	P	0.52424	0.698	T	0.06935	-1.0799	9	0.87932	D	0	-5.45	8.3256	0.32156	0.0:0.8177:0.0:0.1823	.	237	Q92618	ZN516_HUMAN	D	237	ENSP00000394757:E237D	ENSP00000394757:E237D	E	-	3	2	ZNF516	72283288	0.991000	0.36638	0.943000	0.38184	0.910000	0.53928	0.421000	0.21280	0.968000	0.38212	0.557000	0.71058	GAG	ZNF516	-	NULL		0.682	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding		C	NM_014643		74154300	-1	no_errors	ENST00000443185	ensembl	human	known	70_37	missense	SNP	0.980	G
ZNF544	27300	genome.wustl.edu	37	19	58773505	58773505	+	Missense_Mutation	SNP	G	G	C	rs201105161	byFrequency	TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr19:58773505G>C	ENST00000596652.1	+	6	1767	c.1533G>C	c.(1531-1533)caG>caC	p.Q511H	ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q483H|ZNF544_ENST00000599953.1_Missense_Mutation_p.Q369H|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q483H|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000269829.4_Missense_Mutation_p.Q511H|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q483H|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	511					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTGTACATCAGAGGACACACA	0.443																																																	0													77.0	80.0	79.0					19																	58773505		2203	4300	6503	SO:0001583	missense	27300			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1533G>C	19.37:g.58773505G>C	ENSP00000469635:p.Gln511His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J1|Q9UEX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q511H	ENST00000596652.1	37	c.1533	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	9.407	1.079493	0.20309	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.07567	3.18;3.18	2.8	0.492	0.16872	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	L	0.41356	1.27	0.09310	N	0.999999	B;P;P	0.45986	0.197;0.698;0.87	B;B;B	0.37091	0.045;0.241;0.241	T	0.32771	-0.9894	9	0.72032	D	0.01	.	3.6815	0.08312	0.2585:0.2107:0.5309:0.0	.	483;483;511	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	H	511;483	ENSP00000269829:Q511H;ENSP00000394341:Q483H	ENSP00000269829:Q511H	Q	+	3	2	ZNF544	63465317	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.038000	0.13862	0.064000	0.16427	0.514000	0.50259	CAG	ZNF544	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	G	NM_014480		58773505	+1	no_errors	ENST00000269829	ensembl	human	known	70_37	missense	SNP	0.001	C
ZNF658	26149	genome.wustl.edu	37	9	40774728	40774728	+	Missense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr9:40774728G>A	ENST00000602553.1	-	5	841	c.547C>T	c.(547-549)Cat>Tat	p.H183Y	ZNF658_ENST00000377626.3_Missense_Mutation_p.H183Y|ZNF658_ENST00000441795.1_Missense_Mutation_p.H181Y			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTTCAGCATGAGCTTTCTCA	0.313																																																	0													9.0	10.0	10.0					9																	40774728		1969	3893	5862	SO:0001583	missense	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.547C>T	9.37:g.40774728G>A	ENSP00000473484:p.His183Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H183Y	ENST00000602553.1	37	c.547	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	g	9.110	1.006382	0.19199	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.06608	3.37;3.28	1.81	-0.448	0.12230	.	.	.	.	.	T	0.13157	0.0319	L	0.60957	1.885	0.09310	N	1	D;D	0.69078	0.997;0.97	P;P	0.59288	0.855;0.58	T	0.14448	-1.0472	9	0.54805	T	0.06	.	5.3375	0.15965	0.0:0.2219:0.5519:0.2261	.	183;183	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	Y	181;183	ENSP00000408462:H181Y;ENSP00000366853:H183Y	ENSP00000366853:H183Y	H	-	1	0	ZNF658	40764728	0.523000	0.26274	0.000000	0.03702	0.099000	0.18886	2.795000	0.47861	-0.083000	0.12618	0.391000	0.25812	CAT	ZNF658	-	NULL		0.313	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	G	NM_033160		40774728	-1	no_errors	ENST00000377626	ensembl	human	known	70_37	missense	SNP	0.005	A
ZNF720	124411	genome.wustl.edu	37	16	31724683	31724683	+	5'UTR	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:31724683C>G	ENST00000316491.9	+	0	129				ZNF720_ENST00000399681.3_5'UTR|ZNF720_ENST00000531864.2_3'UTR|ZNF720_ENST00000534369.1_5'UTR|ZNF720_ENST00000539915.1_5'UTR|CTD-2358C21.4_ENST00000569175.2_RNA|ZNF720_ENST00000398696.3_5'UTR	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						GACAGAACCTCTGTTACTCTG	0.592																																																	0													22.0	26.0	25.0					16																	31724683		692	1591	2283	SO:0001623	5_prime_UTR_variant	124411			AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.-71C>G	16.37:g.31724683C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQX1	RNA	SNP	-	NULL	ENST00000316491.9	37	NULL	CCDS45473.1	16																																																																																			ZNF720	-	-		0.592	ZNF720-001	KNOWN	basic|CCDS	protein_coding	ZNF720	HGNC	protein_coding	OTTHUMT00000394883.3	C	NM_001004300		31724683	+1	no_errors	ENST00000531864	ensembl	human	known	70_37	rna	SNP	0.003	G
ZNF815P	401303	genome.wustl.edu	37	7	5887178	5887178	+	RNA	SNP	C	C	T	rs568019714	byFrequency	TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr7:5887178C>T	ENST00000421890.1	+	0	1352							A8K554	ZN815_HUMAN	zinc finger protein 815, pseudogene																		GAAGTCACACCTCATCCTGCG	0.647																																																	0																																												401303			AK096288		7p22.1	2012-10-05	2012-04-20	2012-04-20	ENSG00000235944	ENSG00000235944			22029	pseudogene	pseudogene			"""zinc finger protein 815"""	ZNF815			Standard	NR_023382		Approved	FLJ38969	uc003spc.2	A8K554	OTTHUMG00000155501		7.37:g.5887178C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000421890.1	37	NULL		7																																																																																			ZNF815P	-	-		0.647	ZNF815P-002	KNOWN	basic	processed_transcript	ZNF815P	HGNC	pseudogene	OTTHUMT00000340385.1	C			5887178	+1	no_errors	ENST00000422825	ensembl	human	known	70_37	rna	SNP	0.980	T
ZNF821	55565	genome.wustl.edu	37	16	71898131	71898131	+	Missense_Mutation	SNP	C	C	G	rs267604625		TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr16:71898131C>G	ENST00000565601.1	-	5	734	c.327G>C	c.(325-327)ttG>ttC	p.L109F	ZNF821_ENST00000564134.1_Missense_Mutation_p.L108F|ZNF821_ENST00000425432.1_Missense_Mutation_p.L109F|ZNF821_ENST00000446827.2_Missense_Mutation_p.L67F|ZNF821_ENST00000313565.6_Missense_Mutation_p.L67F|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GGTCAGAATTCAAATTCCCTG	0.493																																																	0													77.0	80.0	79.0					16																	71898131		2198	4300	6498	SO:0001583	missense	55565			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.327G>C	16.37:g.71898131C>G	ENSP00000455648:p.Leu109Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L109F	ENST00000565601.1	37	c.327	CCDS56006.1	16	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069887	0.36566	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.01474	6.49;4.85;4.85	5.59	2.02	0.26589	.	0.257949	0.32459	N	0.006075	T	0.01254	0.0041	N	0.14661	0.345	0.36270	D	0.855099	P;B	0.44877	0.845;0.311	B;B	0.40329	0.326;0.24	T	0.65919	-0.6051	10	0.62326	D	0.03	-1.9351	5.309	0.15819	0.0:0.5677:0.1415:0.2908	.	109;67	B4DKK4;O75541-2	.;.	F	109;67;67	ENSP00000398089:L109F;ENSP00000313822:L67F;ENSP00000405908:L67F	ENSP00000313822:L67F	L	-	3	2	ZNF821	70455632	1.000000	0.71417	0.732000	0.30844	0.760000	0.43138	1.025000	0.30090	0.136000	0.18733	-0.145000	0.13849	TTG	ZNF821	-	NULL		0.493	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF821	HGNC	protein_coding	OTTHUMT00000434180.1	C	NM_017530		71898131	-1	no_errors	ENST00000425432	ensembl	human	known	70_37	missense	SNP	0.942	G
ZNF831	128611	genome.wustl.edu	37	20	57768903	57768903	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:57768903C>T	ENST00000371030.2	+	1	2829	c.2829C>T	c.(2827-2829)ctC>ctT	p.L943L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	943							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGTACCTCCTCAGGTTACCTC	0.637																																																	0													83.0	83.0	83.0					20																	57768903		1989	4167	6156	SO:0001819	synonymous_variant	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2829C>T	20.37:g.57768903C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDR4|Q8TCP0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L943	ENST00000371030.2	37	c.2829	CCDS42894.1	20																																																																																			ZNF831	-	NULL		0.637	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57768903	+1	no_errors	ENST00000371030	ensembl	human	novel	70_37	silent	SNP	0.995	T
ZNF831	128611	genome.wustl.edu	37	20	57768913	57768913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:57768913C>T	ENST00000371030.2	+	1	2839	c.2839C>T	c.(2839-2841)Cag>Tag	p.Q947*		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	947							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGGTTACCTCAGGCAGAGAC	0.607																																																	0													85.0	86.0	85.0					20																	57768913		2001	4169	6170	SO:0001587	stop_gained	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2839C>T	20.37:g.57768913C>T	ENSP00000360069:p.Gln947*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDR4|Q8TCP0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q947*	ENST00000371030.2	37	c.2839	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	41	9.010828	0.99035	.	.	ENSG00000124203	ENST00000371030	.	.	.	5.05	5.05	0.67936	.	0.251758	0.28301	N	0.015845	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.6505	15.9364	0.79712	0.0:1.0:0.0:0.0	.	.	.	.	X	947	.	ENSP00000360069:Q947X	Q	+	1	0	ZNF831	57202308	.	.	0.977000	0.42913	0.803000	0.45373	.	.	2.504000	0.84457	0.655000	0.94253	CAG	ZNF831	-	NULL		0.607	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57768913	+1	no_errors	ENST00000371030	ensembl	human	novel	70_37	nonsense	SNP	0.998	T
ZNF831	128611	genome.wustl.edu	37	20	57768971	57768971	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr20:57768971C>G	ENST00000371030.2	+	1	2897	c.2897C>G	c.(2896-2898)tCt>tGt	p.S966C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	966							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCCAGGACTCTCTCTGCAGC	0.607																																																	0													80.0	83.0	82.0					20																	57768971		2032	4187	6219	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2897C>G	20.37:g.57768971C>G	ENSP00000360069:p.Ser966Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S966C	ENST00000371030.2	37	c.2897	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319958	0.23994	.	.	ENSG00000124203	ENST00000371030	T	0.05513	3.43	5.05	-0.298	0.12814	.	0.767177	0.11911	N	0.517628	T	0.08626	0.0214	L	0.40543	1.245	0.09310	N	1	D	0.59357	0.985	P	0.49999	0.628	T	0.28459	-1.0043	10	0.72032	D	0.01	0.0161	7.6211	0.28185	0.0:0.5476:0.0:0.4524	.	966	Q5JPB2	ZN831_HUMAN	C	966	ENSP00000360069:S966C	ENSP00000360069:S966C	S	+	2	0	ZNF831	57202366	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.474000	0.22148	0.011000	0.14865	-0.140000	0.14226	TCT	ZNF831	-	NULL		0.607	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	C	NM_178457		57768971	+1	no_errors	ENST00000371030	ensembl	human	novel	70_37	missense	SNP	0.000	G
ZNF879	345462	genome.wustl.edu	37	5	178460428	178460428	+	Silent	SNP	C	C	T			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr5:178460428C>T	ENST00000444149.2	+	5	1667	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F		NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						AGAAAGCCTTCAACCAAAGCT	0.398																																																	0													47.0	42.0	43.0					5																	178460428		692	1591	2283	SO:0001819	synonymous_variant	345462			AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.1479C>T	5.37:g.178460428C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F493	ENST00000444149.2	37	c.1479	CCDS47352.1	5																																																																																			ZNF879	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF879	HGNC	protein_coding	OTTHUMT00000374447.1	C	NM_001136116		178460428	+1	no_errors	ENST00000444149	ensembl	human	known	70_37	silent	SNP	1.000	T
ZSWIM8	23053	genome.wustl.edu	37	10	75558858	75558858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr10:75558858G>A	ENST00000605216.1	+	21	4477	c.4260G>A	c.(4258-4260)tgG>tgA	p.W1420*	ZSWIM8_ENST00000603114.1_Nonsense_Mutation_p.W1387*|ZSWIM8_ENST00000398706.2_Nonsense_Mutation_p.W1425*|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604729.1_Nonsense_Mutation_p.W1425*|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604524.1_Intron	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1420							zinc ion binding (GO:0008270)										CTCACCAGTGGTTCTGGCTGT	0.582																																																	0													79.0	86.0	84.0					10																	75558858		2015	4178	6193	SO:0001587	stop_gained	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4260G>A	10.37:g.75558858G>A	ENSP00000474748:p.Trp1420*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Nonsense_Mutation	SNP	pfscan_Znf_SWIM	p.W1425*	ENST00000605216.1	37	c.4275		10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	40|40|40	8.235886|8.235886|8.235886	0.98719|0.98719|0.98719	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000412198|ENST00000433366|ENST00000398706	.|.|.	.|.|.	.|.|.	5.59|5.59|5.59	5.59|5.59|5.59	0.84812|0.84812|0.84812	.|.|.	.|.|0.000000	.|.|0.64402	.|.|U	.|.|0.000002	T|T|.	0.47764|0.47764|.	0.1463|0.1463|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.37572|0.37572|.	-0.9700|-0.9700|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	-4.3627|-4.3627|-4.3627	19.5953|19.5953|19.5953	0.95535|0.95535|0.95535	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|I|X	695|1136|1425	.|.|.	.|.|ENSP00000381693:W1425X	G|V|W	+|+|+	2|1|3	0|0|0	KIAA0913|KIAA0913|KIAA0913	75228864|75228864|75228864	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	9.366000|9.366000|9.366000	0.97143|0.97143|0.97143	2.643000|2.643000|2.643000	0.89663|0.89663|0.89663	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGT|GTT|TGG	ZSWIM8	-	NULL		0.582	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1	G	NM_001242487		75558858	+1	no_errors	ENST00000398706	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZYG11A	440590	genome.wustl.edu	37	1	53352634	53352634	+	Missense_Mutation	SNP	C	C	G			TCGA-DG-A2KK-01A-11D-A17W-09	TCGA-DG-A2KK-10A-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78621820-2b45-4adf-b5dc-fc093a302208	f42b0b3e-1c17-467f-8083-e09417c6c424	g.chr1:53352634C>G	ENST00000371528.1	+	13	2161	c.2013C>G	c.(2011-2013)ttC>ttG	p.F671L	ZYG11A_ENST00000371532.1_Missense_Mutation_p.F329L	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	671										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						TTAGATCTTTCAAGACATTTT	0.348																																																	0													192.0	150.0	163.0					1																	53352634		692	1591	2283	SO:0001583	missense	440590				CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.2013C>G	1.37:g.53352634C>G	ENSP00000360583:p.Phe671Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCK5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F671L	ENST00000371528.1	37	c.2013	CCDS44148.1	1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493282	0.26774	.	.	ENSG00000203995	ENST00000371532;ENST00000371528	T;T	0.38077	1.16;1.16	4.98	2.1	0.27182	Armadillo-like helical (1);Armadillo-type fold (1);	0.100209	0.64402	N	0.000001	T	0.40322	0.1112	M	0.79693	2.465	0.42466	D	0.992801	B	0.27286	0.174	B	0.32624	0.149	T	0.32877	-0.9890	10	0.59425	D	0.04	-4.7345	8.0838	0.30760	0.1292:0.7335:0.0:0.1373	.	671	Q6WRX3	ZY11A_HUMAN	L	329;671	ENSP00000360587:F329L;ENSP00000360583:F671L	ENSP00000360583:F671L	F	+	3	2	ZYG11A	53125222	0.953000	0.32496	0.078000	0.20375	0.188000	0.23474	0.014000	0.13333	0.380000	0.24823	-0.152000	0.13540	TTC	ZYG11A	-	superfamily_ARM-type_fold		0.348	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11A	HGNC	protein_coding	OTTHUMT00000024856.3	C	NM_001004339		53352634	+1	no_errors	ENST00000371528	ensembl	human	known	70_37	missense	SNP	0.984	G
