#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTA2	59	genome.wustl.edu	37	10	90708572	90708572	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr10:90708572C>T	ENST00000458208.1	-	2	590	c.116G>A	c.(115-117)cGt>cAt	p.R39H	ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Missense_Mutation_p.R39H|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	39			R -> H (in AAT6). {ECO:0000269|PubMed:19409525}.		glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ATGTCTGGGACGTCCCACAAT	0.498																																						dbGAP											0													127.0	124.0	125.0					10																	90708572		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.116G>A	10.37:g.90708572C>T	ENSP00000402373:p.Arg39His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R39H	ENST00000458208.1	37	c.116	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482793	0.63962	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000415557;ENST00000458159	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.95001	0.8382	M	0.80982	2.52	0.58432	D	0.999997	D;B	0.76494	0.999;0.017	P;B	0.54174	0.744;0.054	D	0.95363	0.8457	10	0.87932	D	0	.	18.4002	0.90514	0.0:1.0:0.0:0.0	.	39;39	B7Z6I1;P62736	.;ACTA_HUMAN	H	39	ENSP00000224784:R39H;ENSP00000402373:R39H;ENSP00000396730:R39H;ENSP00000398239:R39H	ENSP00000224784:R39H	R	-	2	0	ACTA2	90698552	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.688000	0.91661	0.650000	0.86243	CGT	ACTA2	-	pfam_Actin-like,smart_Actin-like	ENSG00000107796		0.498	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1	30	0.00	0	C	NM_001613		90708572	90708572	-1	no_errors	ENST00000224784	ensembl	human	known	69_37n	missense	17	34.62	9	SNP	1.000	T
ALOX15B	247	genome.wustl.edu	37	17	7942523	7942523	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr17:7942523G>A	ENST00000380183.4	+	1	189	c.50G>A	c.(49-51)gGc>gAc	p.G17D	ALOX15B_ENST00000380173.2_Missense_Mutation_p.G17D|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G17D|ALOX15B_ENST00000573359.1_Missense_Mutation_p.G17D	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	17	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TTCGGGGCTGGCACATGGGAC	0.657																																						dbGAP											0													65.0	69.0	68.0					17																	7942523		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.50G>A	17.37:g.7942523G>A	ENSP00000369530:p.Gly17Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.G17D	ENST00000380183.4	37	c.50	CCDS11128.1	17	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102033	0.56183	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.32515	1.45;1.45	4.09	4.09	0.47781	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.205916	0.38778	N	0.001572	T	0.58438	0.2122	M	0.82323	2.585	0.58432	D	0.999991	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.78314	0.991;0.984;0.984;0.991	T	0.67381	-0.5685	10	0.87932	D	0	-28.1916	15.4194	0.75000	0.0:0.0:1.0:0.0	.	17;17;17;17	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	D	17	ENSP00000369520:G17D;ENSP00000369530:G17D	ENSP00000344337:G17D	G	+	2	0	ALOX15B	7883248	0.998000	0.40836	0.873000	0.34254	0.429000	0.31625	2.440000	0.44855	1.963000	0.57068	0.585000	0.79938	GGC	ALOX15B	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml	ENSG00000179593		0.657	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2	39	0.00	0	G			7942523	7942523	+1	no_errors	ENST00000380183	ensembl	human	known	69_37n	missense	16	38.46	10	SNP	0.991	A
ASPH	444	genome.wustl.edu	37	8	62460693	62460693	+	Silent	SNP	C	C	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr8:62460693C>T	ENST00000379454.4	-	21	1888	c.1701G>A	c.(1699-1701)gtG>gtA	p.V567V	ASPH_ENST00000541428.1_Silent_p.V538V	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	567					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCAGTCCATTCACATTGTAGA	0.453																																						dbGAP											0													185.0	158.0	167.0					8																	62460693		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1701G>A	8.37:g.62460693C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Silent	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V567	ENST00000379454.4	37	c.1701	CCDS34898.1	8																																																																																			ASPH	-	NULL	ENSG00000198363		0.453	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	74	0.00	0	C	NM_004318		62460693	62460693	-1	no_errors	ENST00000379454	ensembl	human	known	69_37n	silent	43	30.65	19	SNP	0.996	T
ATN1	1822	genome.wustl.edu	37	12	7045008	7045008	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr12:7045008G>A	ENST00000356654.4	+	5	815	c.578G>A	c.(577-579)gGa>gAa	p.G193E	ATN1_ENST00000396684.2_Missense_Mutation_p.G193E	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	193					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ACACCCACTGGATATCATGCT	0.617																																						dbGAP											0													95.0	94.0	94.0					12																	7045008		2203	4300	6503	-	-	-	SO:0001583	missense	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.578G>A	12.37:g.7045008G>A	ENSP00000349076:p.Gly193Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.G193E	ENST00000356654.4	37	c.578	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	g	14.68	2.607030	0.46527	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.52754	0.65;0.65;0.65	3.56	2.65	0.31530	.	.	.	.	.	T	0.21022	0.0506	N	0.14661	0.345	0.41054	D	0.985322	B;B	0.34103	0.437;0.164	B;B	0.27500	0.08;0.041	T	0.16247	-1.0409	9	0.05351	T	0.99	.	8.4987	0.33144	0.1899:0.0:0.8101:0.0	.	193;193	Q86V38;P54259	.;ATN1_HUMAN	E	193	ENSP00000349076:G193E;ENSP00000379915:G193E;ENSP00000441744:G193E	ENSP00000349076:G193E	G	+	2	0	ATN1	6915269	.	.	0.998000	0.56505	0.981000	0.71138	.	.	1.996000	0.58369	0.454000	0.30748	GGA	ATN1	-	NULL	ENSG00000111676		0.617	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	51	0.00	0	G	NM_001940		7045008	7045008	+1	no_errors	ENST00000356654	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	0.623	A
DDIAS	220042	genome.wustl.edu	37	11	82639858	82639858	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr11:82639858delA	ENST00000533655.1	+	4	365	c.153delA	c.(151-153)ggafs	p.G51fs	C11orf82_ENST00000430323.2_Frame_Shift_Del_p.G51fs|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000525388.1_Frame_Shift_Del_p.G51fs|C11orf82_ENST00000528759.1_Intron|C11orf82_ENST00000525361.1_Frame_Shift_Del_p.G51fs|C11orf82_ENST00000524921.1_Frame_Shift_Del_p.G51fs|C11orf82_ENST00000329143.3_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		51					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GTGAATCTGGAAATGCCAATT	0.318																																						dbGAP											0													101.0	102.0	102.0					11																	82639858		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000533655.1:c.153delA	11.37:g.82639858delA	ENSP00000435421:p.Gly51fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96LK6|Q9H856	Frame_Shift_Del	DEL	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like	p.N52fs	ENST00000533655.1	37	c.153	CCDS8263.1	11																																																																																			C11orf82	-	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like	ENSG00000165490		0.318	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf82	HGNC	protein_coding	OTTHUMT00000391936.1	88	0.00	0	A			82639858	82639858	+1	no_errors	ENST00000430323	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	0.984	-
C1RL	51279	genome.wustl.edu	37	12	7249748	7249748	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr12:7249748G>A	ENST00000266542.4	-	6	795	c.703C>T	c.(703-705)Cca>Tca	p.P235S	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_Silent_p.G250G|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	235					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGGTGACTGGCCGTCCGCAG	0.592																																						dbGAP											0													26.0	31.0	29.0					12																	7249748		2198	4297	6495	-	-	-	SO:0001583	missense	0			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.703C>T	12.37:g.7249748G>A	ENSP00000266542:p.Pro235Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GX9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P235S	ENST00000266542.4	37	c.703	CCDS8573.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.265356|4.265356	0.80358|0.80358	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661	.|T	.|0.55760	.|0.5	4.32|4.32	4.32|4.32	0.51571|0.51571	.|Peptidase cysteine/serine, trypsin-like (1);Complement control module (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.66934|0.66934	0.2840|0.2840	L|L	0.53561|0.53561	1.675|1.675	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.73708	.|0.981	T|T	0.67515|0.67515	-0.5651|-0.5651	5|10	.|0.44086	.|T	.|0.13	.|.	15.9656|15.9656	0.79968|0.79968	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|235	.|Q9NZP8	.|C1RL_HUMAN	V|S	67|235	.|ENSP00000266542:P235S	.|ENSP00000266542:P235S	A|P	-|-	2|1	0|0	C1RL|C1RL	7140890|7140890	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.940000|0.940000	0.58332|0.58332	7.539000|7.539000	0.82063|0.82063	2.242000|2.242000	0.73789|0.73789	0.436000|0.436000	0.28706|0.28706	GCC|CCA	C1RL	-	superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module	ENSG00000139178		0.592	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	HGNC	protein_coding	OTTHUMT00000398367.1	40	0.00	0	G	NM_016546		7249748	7249748	-1	no_errors	ENST00000266542	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	A
CCPG1	9236	genome.wustl.edu	37	15	55653040	55653040	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr15:55653040T>C	ENST00000310958.6	-	8	1229	c.931A>G	c.(931-933)Aga>Gga	p.R311G	CCPG1_ENST00000442196.3_Missense_Mutation_p.R311G|CCPG1_ENST00000425574.3_Missense_Mutation_p.R311G|CCPG1_ENST00000569205.1_Missense_Mutation_p.R311G|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	311					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AAGGATACTCTTAAATACTGA	0.358																																						dbGAP											0													80.0	75.0	77.0					15																	55653040		1818	4081	5899	-	-	-	SO:0001583	missense	0			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.931A>G	15.37:g.55653040T>C	ENSP00000311656:p.Arg311Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.R311G	ENST00000310958.6	37	c.931	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	T	17.19	3.325442	0.60743	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.37058	1.28;1.28;1.22	5.72	0.085	0.14439	.	0.186868	0.53938	D	0.000052	T	0.58004	0.2092	M	0.76838	2.35	0.42460	D	0.992787	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.982;0.998;0.998	T	0.64744	-0.6335	10	0.87932	D	0	.	14.1141	0.65142	0.0:0.0:0.495:0.505	.	311;311;311;311;167	A8K9T0;Q9ULG6-3;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;.;CCPG1_HUMAN;.	G	311	ENSP00000311656:R311G;ENSP00000403400:R311G;ENSP00000415128:R311G	ENSP00000311656:R311G	R	-	1	2	DYX1C1	53440332	0.988000	0.35896	0.818000	0.32626	0.982000	0.71751	0.866000	0.27954	0.104000	0.17725	0.528000	0.53228	AGA	CCPG1	-	NULL	ENSG00000260916		0.358	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	89	0.00	0	T	NM_004748		55653040	55653040	-1	no_errors	ENST00000310958	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.995	C
COBLL1	22837	genome.wustl.edu	37	2	165551146	165551146	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr2:165551146delA	ENST00000392717.2	-	13	2988	c.2984delT	c.(2983-2985)ttafs	p.L995fs	COBLL1_ENST00000375458.2_Frame_Shift_Del_p.L919fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.L957fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.L1024fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.L957fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	995						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CATTTTACTTAAGGGAGAAAG	0.488																																						dbGAP											0													47.0	48.0	47.0					2																	165551146		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2984delT	2.37:g.165551146delA	ENSP00000376478:p.Leu995fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.L1024fs	ENST00000392717.2	37	c.3071		2																																																																																			COBLL1	-	NULL	ENSG00000082438		0.488	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		47	0.00	0	A	NM_014900		165551146	165551146	-1	no_errors	ENST00000194871	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	0.925	-
EEF2K	29904	genome.wustl.edu	37	16	22262009	22262009	+	Missense_Mutation	SNP	G	G	A	rs555655059		TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr16:22262009G>A	ENST00000263026.5	+	5	917	c.443G>A	c.(442-444)cGg>cAg	p.R148Q		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	148	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GAGTGCTTCCGGACGTAAGTG	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19339	0.0		0.0	False		,,,				2504	0.001				NSCLC(195;1411 2157 20319 27471 51856)	dbGAP											0													90.0	82.0	84.0					16																	22262009		2197	4300	6497	-	-	-	SO:0001583	missense	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.443G>A	16.37:g.22262009G>A	ENSP00000263026:p.Arg148Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N588	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.R148Q	ENST00000263026.5	37	c.443	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.334336	0.95758	.	.	ENSG00000103319	ENST00000263026	T	0.15017	2.46	5.09	4.12	0.48240	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.42810	0.1219	M	0.77103	2.36	0.58432	D	0.999999	D	0.64830	0.994	D	0.71414	0.973	T	0.45804	-0.9236	10	0.59425	D	0.04	-13.8268	15.514	0.75809	0.0:0.1388:0.8612:0.0	.	148	O00418	EF2K_HUMAN	Q	148	ENSP00000263026:R148Q	ENSP00000263026:R148Q	R	+	2	0	EEF2K	22169510	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.608000	0.98331	1.113000	0.41760	0.563000	0.77884	CGG	EEF2K	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000103319		0.587	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	44	0.00	0	G	NM_013302		22262009	22262009	+1	no_errors	ENST00000263026	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	1.000	A
EEF2K	29904	genome.wustl.edu	37	16	22295264	22295264	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr16:22295264G>A	ENST00000263026.5	+	18	2599	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	RP11-141O15.1_ENST00000568125.1_RNA|RP11-141O15.1_ENST00000563344.1_RNA|RP11-141O15.1_ENST00000562376.1_RNA	NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	709					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGGCCGACTGGCCAACCAGTA	0.562																																					NSCLC(195;1411 2157 20319 27471 51856)	dbGAP											0													30.0	28.0	29.0					16																	22295264		2191	4295	6486	-	-	-	SO:0001583	missense	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.2125G>A	16.37:g.22295264G>A	ENSP00000263026:p.Ala709Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N588	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.A709T	ENST00000263026.5	37	c.2125	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.762689	0.96906	.	.	ENSG00000103319	ENST00000263026	T	0.26518	1.73	5.71	5.71	0.89125	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.55471	-0.8136	10	0.87932	D	0	-23.9069	19.8575	0.96767	0.0:0.0:1.0:0.0	.	709	O00418	EF2K_HUMAN	T	709	ENSP00000263026:A709T	ENSP00000263026:A709T	A	+	1	0	EEF2K	22202765	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.383000	0.97214	2.698000	0.92095	0.561000	0.74099	GCC	EEF2K	-	pirsf_Elongation_factor_2_kinase	ENSG00000103319		0.562	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	28	0.00	0	G	NM_013302		22295264	22295264	+1	no_errors	ENST00000263026	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	1.000	A
DUS2	54920	genome.wustl.edu	37	16	68087509	68087509	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr16:68087509T>A	ENST00000565263.1	+	5	709	c.215T>A	c.(214-216)gTt>gAt	p.V72D	DUS2_ENST00000358896.6_Missense_Mutation_p.V72D|DUS2_ENST00000432752.1_Missense_Mutation_p.V72D|AC130462.1_ENST00000408862.1_RNA	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	72					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										GATGATCGAGTTGTCTTCCGC	0.532																																						dbGAP											0													197.0	152.0	167.0					16																	68087509		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.215T>A	16.37:g.68087509T>A	ENSP00000455229:p.Val72Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3G3|Q4H4D9	Missense_Mutation	SNP	pfam_tRNA_hU_synthase,pfam_Ds-RNA-bd,smart_Ds-RNA-bd	p.V72D	ENST00000565263.1	37	c.215	CCDS10859.1	16	.	.	.	.	.	.	.	.	.	.	T	12.45	1.943069	0.34283	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.29397	1.57;1.95	5.97	5.97	0.96955	Aldolase-type TIM barrel (1);	0.070917	0.56097	D	0.000039	T	0.57636	0.2067	M	0.84082	2.675	0.80722	D	1	D;D	0.67145	0.996;0.99	D;D	0.67725	0.928;0.953	T	0.63782	-0.6559	10	0.87932	D	0	-33.2628	13.9755	0.64271	0.0:0.0:0.0:1.0	.	72;72	E7EUN9;Q9NX74	.;DUS2L_HUMAN	D	72	ENSP00000351769:V72D;ENSP00000409498:V72D	ENSP00000351769:V72D	V	+	2	0	DUS2L	66645010	1.000000	0.71417	0.920000	0.36463	0.388000	0.30384	4.704000	0.61831	2.286000	0.76751	0.455000	0.32223	GTT	DUS2L	-	pfam_tRNA_hU_synthase	ENSG00000167264		0.532	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS2L	HGNC	protein_coding	OTTHUMT00000268869.2	56	0.00	0	T	NM_017803		68087509	68087509	+1	no_errors	ENST00000358896	ensembl	human	known	69_37n	missense	43	39.44	28	SNP	0.992	A
ELP2	55250	genome.wustl.edu	37	18	33716295	33716295	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr18:33716295delA	ENST00000358232.6	+	3	306	c.243delA	c.(241-243)ggafs	p.G82fs	ELP2_ENST00000542824.1_Frame_Shift_Del_p.G82fs|ELP2_ENST00000442325.2_Frame_Shift_Del_p.G82fs|ELP2_ENST00000351393.6_Frame_Shift_Del_p.G82fs|ELP2_ENST00000423854.2_Frame_Shift_Del_p.G82fs|ELP2_ENST00000350494.6_Frame_Shift_Del_p.G82fs	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	82					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TAGTTTCTGGAGGATCTGATA	0.294																																						dbGAP											0													107.0	117.0	114.0					18																	33716295		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.243delA	18.37:g.33716295delA	ENSP00000350967:p.Gly82fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G82fs	ENST00000358232.6	37	c.243	CCDS11918.1	18																																																																																			ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134759		0.294	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	127	0.00	0	A	NM_018255		33716295	33716295	+1	no_errors	ENST00000358232	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
ERBB3	2065	genome.wustl.edu	37	12	56495328	56495328	+	Frame_Shift_Del	DEL	G	G	-	rs138861245	byFrequency	TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr12:56495328delG	ENST00000267101.3	+	28	3958	c.3518delG	c.(3517-3519)cggfs	p.R1173fs	ERBB3_ENST00000450146.2_Frame_Shift_Del_p.R530fs|ERBB3_ENST00000553131.1_Frame_Shift_Del_p.R414fs|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000415288.2_Frame_Shift_Del_p.R1114fs|ERBB3_ENST00000549832.1_Frame_Shift_Del_p.R293fs|RP11-603J24.9_ENST00000548861.1_Intron|PA2G4_ENST00000552766.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1173					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCCTCCTCCCGGGAAGGCACC	0.483																																						dbGAP											0													77.0	83.0	81.0					12																	56495328		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3518delG	12.37:g.56495328delG	ENSP00000267101:p.Arg1173fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1174fs	ENST00000267101.3	37	c.3518	CCDS31833.1	12																																																																																			ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.483	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	52	0.00	0	G			56495328	56495328	+1	no_errors	ENST00000267101	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	33	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	31	22.50	9	INS	0.033:0.036	GCA
FGFR1	2260	genome.wustl.edu	37	8	38282147	38282147	+	Silent	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr8:38282147G>A	ENST00000447712.2	-	7	1757	c.816C>T	c.(814-816)aaC>aaT	p.N272N	FGFR1_ENST00000397091.5_Silent_p.N270N|FGFR1_ENST00000397103.1_Silent_p.N181N|FGFR1_ENST00000532791.1_Silent_p.N272N|FGFR1_ENST00000356207.5_Silent_p.N183N|FGFR1_ENST00000397108.4_Silent_p.N270N|FGFR1_ENST00000425967.3_Silent_p.N303N|FGFR1_ENST00000341462.5_Silent_p.N273N|FGFR1_ENST00000335922.5_Silent_p.N264N|FGFR1_ENST00000326324.6_Silent_p.N181N|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000397113.2_Silent_p.N270N	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	272	Ig-like C2-type 3.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGAACTCCACGTTGCTACCCA	0.587		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	dbGAP		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													116.0	125.0	122.0					8																	38282147		2147	4264	6411	-	-	-	SO:0001819	synonymous_variant	0			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.816C>T	8.37:g.38282147G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N303	ENST00000447712.2	37	c.909	CCDS6107.2	8																																																																																			FGFR1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Ig-like	ENSG00000077782		0.587	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		73	0.00	0	G			38282147	38282147	-1	no_errors	ENST00000425967	ensembl	human	known	69_37n	silent	58	34.09	30	SNP	0.971	A
WEE2	494551	genome.wustl.edu	37	7	141423729	141423729	+	Intron	DEL	T	T	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr7:141423729delT	ENST00000397541.2	+	7	1433				WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)						female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TATCCTGTCATTTTTTTTTCA	0.348																																						dbGAP											0										19,24,3461		1,0,17,3,18,1713	69.0	62.0	64.0			-2.8	0.0	7		64	16,37,7743		1,0,14,3,31,3849	no	intron	WEE2	NM_001105558.1		2,0,31,6,49,5562	A1A1,A1A2,A1R,A2A2,A2R,RR		0.6798,1.2272,0.8496			141423729	35,61,11204	1809	4069	5878	-	-	-	SO:0001627	intron_variant	0			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1028-12T>-	7.37:g.141423729delT		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000397541.2	37	NULL	CCDS43660.1	7																																																																																			RP5-894A10.5	-	-	ENSG00000228775		0.348	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLJ40852	Clone_based_vega_gene	protein_coding	OTTHUMT00000349091.1	82	0.00	0	T	NM_001105558		141423729	141423729	-1	no_errors	ENST00000459753	ensembl	human	known	69_37n	rna	11	15.38	2	DEL	0.003	-
FRG1B	284802	genome.wustl.edu	37	20	29612303	29612303	+	Intron	SNP	T	T	G	rs76953255	byFrequency	TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr20:29612303T>G	ENST00000278882.3	+	1	257				FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000439954.2_Intron|FRG1B_ENST00000468180.2_Intron			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CCTCCCGTGCTGACGACCCTG	0.682																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-124+190T>G	20.37:g.29612303T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	C4AME5	RNA	SNP	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			FRG1B	-	-	ENSG00000149531		0.682	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	11	0.00	0	T	NR_003579		29612303	29612303	+1	no_errors	ENST00000482423	ensembl	human	known	69_37n	rna	8	42.86	6	SNP	0.000	G
INTS10	55174	genome.wustl.edu	37	8	19677944	19677944	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr8:19677944C>G	ENST00000397977.3	+	4	754	c.356C>G	c.(355-357)aCg>aGg	p.T119R	INTS10_ENST00000521758.1_Intron	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	119					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CTAAAGGTCACGGAACAATGC	0.418																																						dbGAP											0													138.0	132.0	134.0					8																	19677944		1899	4121	6020	-	-	-	SO:0001583	missense	0			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.356C>G	8.37:g.19677944C>G	ENSP00000381064:p.Thr119Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.T119R	ENST00000397977.3	37	c.356	CCDS6011.2	8	.	.	.	.	.	.	.	.	.	.	C	34	5.320522	0.95682	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75459	-0.3310	9	0.72032	D	0.01	-21.9436	18.7657	0.91871	0.0:1.0:0.0:0.0	.	119	Q9NVR2	INT10_HUMAN	R	119	.	ENSP00000381064:T119R	T	+	2	0	INTS10	19722224	1.000000	0.71417	0.912000	0.35992	0.999000	0.98932	7.316000	0.79007	2.776000	0.95493	0.655000	0.94253	ACG	INTS10	-	NULL	ENSG00000104613		0.418	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2	107	0.00	0	C	NM_018142		19677944	19677944	+1	no_errors	ENST00000397977	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	1.000	G
INTU	27152	genome.wustl.edu	37	4	128637566	128637566	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr4:128637566A>C	ENST00000335251.6	+	16	2907	c.2804A>C	c.(2803-2805)aAa>aCa	p.K935T		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	935					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATAGCTTTTAAATTGTTCTTT	0.373																																						dbGAP											0													151.0	144.0	146.0					4																	128637566		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2804A>C	4.37:g.128637566A>C	ENSP00000334003:p.Lys935Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K935T	ENST00000335251.6	37	c.2804	CCDS34061.1	4	.	.	.	.	.	.	.	.	.	.	A	17.95	3.512785	0.64522	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.31	3.08	0.35506	.	0.111689	0.64402	D	0.000011	T	0.61664	0.2365	L	0.56769	1.78	0.80722	D	1	D	0.56746	0.977	P	0.52957	0.714	T	0.63152	-0.6701	9	0.72032	D	0.01	-13.1918	9.9591	0.41686	0.9186:0.0:0.0814:0.0	.	935	Q9ULD6	PDZD6_HUMAN	T	935	.	ENSP00000334003:K935T	K	+	2	0	INTU	128857016	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	4.635000	0.61332	0.660000	0.30964	0.528000	0.53228	AAA	INTU	-	NULL	ENSG00000164066		0.373	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	INTU	HGNC	protein_coding	OTTHUMT00000364147.2	150	0.00	0	A	XM_371707		128637566	128637566	+1	no_errors	ENST00000335251	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	C
ITGB1	3688	genome.wustl.edu	37	10	33212629	33212629	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr10:33212629A>G	ENST00000396033.2	-	7	961	c.826T>C	c.(826-828)Ttt>Ctt	p.F276L	ITGB1_ENST00000484088.1_5'Flank|ITGB1_ENST00000423113.1_Missense_Mutation_p.F276L|ITGB1_ENST00000302278.3_Missense_Mutation_p.F276L|ITGB1_ENST00000374956.4_Missense_Mutation_p.F276L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	276	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TCTGTGGAAAACACCAGCAGC	0.388																																						dbGAP											0													54.0	50.0	51.0					10																	33212629		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.826T>C	10.37:g.33212629A>G	ENSP00000379350:p.Phe276Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.F276L	ENST00000396033.2	37	c.826	CCDS7174.1	10	.	.	.	.	.	.	.	.	.	.	A	31	5.063156	0.93898	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.57	5.57	0.84162	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.97520	0.9188	M	0.63169	1.94	0.80722	D	1	D;D;D;P;D	0.76494	0.999;0.999;0.998;0.454;0.999	D;D;D;B;D	0.87578	0.986;0.998;0.998;0.382;0.997	D	0.97672	1.0167	10	0.46703	T	0.11	.	15.7338	0.77827	1.0:0.0:0.0:0.0	.	276;276;276;276;276	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	L	276	ENSP00000379350:F276L;ENSP00000388694:F276L;ENSP00000303351:F276L;ENSP00000364094:F276L	ENSP00000303351:F276L	F	-	1	0	ITGB1	33252635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.134000	0.65973	0.533000	0.62120	TTT	ITGB1	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000150093		0.388	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB1	HGNC	protein_coding	OTTHUMT00000047496.1	24	0.00	0	A	NM_002211		33212629	33212629	-1	no_errors	ENST00000374956	ensembl	human	known	69_37n	missense	20	29.03	9	SNP	1.000	G
KIFC1	3833	genome.wustl.edu	37	6	33374639	33374639	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr6:33374639G>A	ENST00000428849.2	+	10	2414	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	655	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AACTCTCTACGCTTTGCCTCC	0.527																																						dbGAP											0													103.0	93.0	96.0					6																	33374639		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1964G>A	6.37:g.33374639G>A	ENSP00000393963:p.Arg655His	Somatic		WXS	Illumina GAIIx	Phase_IV	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R655H	ENST00000428849.2	37	c.1964	CCDS34430.1	6	.	.	.	.	.	.	.	.	.	.	G	31	5.067493	0.93898	.	.	ENSG00000237649	ENST00000428849	T	0.77229	-1.08	5.09	5.09	0.68999	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.88043	0.6331	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89594	0.3830	10	0.87932	D	0	-10.6671	16.0508	0.80760	0.0:0.0:1.0:0.0	.	647;655	B4E063;Q9BW19	.;KIFC1_HUMAN	H	655	ENSP00000393963:R655H	ENSP00000393963:R655H	R	+	2	0	KIFC1	33482617	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	6.554000	0.73923	2.656000	0.90262	0.563000	0.77884	CGC	KIFC1	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000237649		0.527	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	98	0.00	0	G	NM_002263		33374639	33374639	+1	no_errors	ENST00000428849	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	0.997	A
KLHL6	89857	genome.wustl.edu	37	3	183209883	183209883	+	Silent	SNP	C	C	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr3:183209883C>A	ENST00000341319.3	-	7	1733	c.1698G>T	c.(1696-1698)cgG>cgT	p.R566R		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	566					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCTTCTCGTCCCGCCCGCCGG	0.677																																						dbGAP											0													78.0	76.0	77.0					3																	183209883		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1698G>T	3.37:g.183209883C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R566	ENST00000341319.3	37	c.1698	CCDS3245.2	3																																																																																			KLHL6	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000172578		0.677	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	19	0.00	0	C	NM_130446		183209883	183209883	-1	no_errors	ENST00000341319	ensembl	human	known	69_37n	silent	17	43.33	13	SNP	0.305	A
LRRC47	57470	genome.wustl.edu	37	1	3697704	3697704	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr1:3697704G>C	ENST00000378251.1	-	7	1727	c.1700C>G	c.(1699-1701)cCg>cGg	p.P567R	RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	567							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.P567R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGCCTTGGACGGGTACACCAC	0.652																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											65.0	71.0	69.0					1																	3697704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1700C>G	1.37:g.3697704G>C	ENSP00000367498:p.Pro567Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULN5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd	p.P567R	ENST00000378251.1	37	c.1700	CCDS51.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463835	0.84425	.	.	ENSG00000130764	ENST00000378251	T	0.71817	-0.6	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.83188	0.5200	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85166	0.0995	10	0.87932	D	0	-32.6402	17.5952	0.88010	0.0:0.0:1.0:0.0	.	567	Q8N1G4	LRC47_HUMAN	R	567	ENSP00000367498:P567R	ENSP00000367498:P567R	P	-	2	0	LRRC47	3687564	1.000000	0.71417	0.948000	0.38648	0.828000	0.46876	9.047000	0.93823	2.396000	0.81511	0.655000	0.94253	CCG	LRRC47	-	NULL	ENSG00000130764		0.652	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC47	HGNC	protein_coding	OTTHUMT00000009744.1	35	0.00	0	G	NM_020710		3697704	3697704	-1	no_errors	ENST00000378251	ensembl	human	known	69_37n	missense	30	25.00	10	SNP	0.999	C
MBIP	51562	genome.wustl.edu	37	14	36783776	36783776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr14:36783776delT	ENST00000416007.4	-	4	600	c.513delA	c.(511-513)caafs	p.Q171fs	MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000318473.7_Frame_Shift_Del_p.Q171fs|MBIP_ENST00000359527.7_Frame_Shift_Del_p.Q171fs	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	171					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TGATTTCAGCTTGCTTTCTTT	0.313																																						dbGAP											0													59.0	58.0	59.0					14																	36783776		2202	4296	6498	-	-	-	SO:0001589	frameshift_variant	0			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.513delA	14.37:g.36783776delT	ENSP00000399718:p.Gln171fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Frame_Shift_Del	DEL	NULL	p.A172fs	ENST00000416007.4	37	c.513	CCDS9658.1	14																																																																																			MBIP	-	NULL	ENSG00000151332		0.313	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBIP	HGNC	protein_coding	OTTHUMT00000276685.2	86	0.00	0	T	NM_016586		36783776	36783776	-1	no_errors	ENST00000416007	ensembl	human	known	69_37n	frame_shift_del	10	16.67	2	DEL	1.000	-
MEG9	100507257	genome.wustl.edu	37	14	101539147	101539147	+	lincRNA	DEL	A	A	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr14:101539147delA	ENST00000429368.1	+	0	2514				AL132709.1_ENST00000448840.2_lincRNA	NR_047664.1				maternally expressed 9 (non-protein coding)																		TAAGTGAAGGAAATGACCATG	0.582																																						dbGAP											0																																										-	-	-			0			AK094562, AK021527		14q32.31	2012-10-19			ENSG00000223403	ENSG00000223403		"""Long non-coding RNAs"", ""-"""	43874	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 584"""					19194500	Standard	NR_047664		Approved	LINC00584	uc001yjz.2		OTTHUMG00000029067		14.37:g.101539147delA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000429368.1	37	NULL		14																																																																																			MEG9	-	-	ENSG00000223403		0.582	MEG9-001	KNOWN	basic	lincRNA	MEG9	HGNC	lincRNA	OTTHUMT00000072600.2	8	0.00	0	A			101539147	101539147	+1	no_errors	ENST00000429368	ensembl	human	known	69_37n	rna	4	33.33	2	DEL	0.059	-
MMD	23531	genome.wustl.edu	37	17	53491548	53491548	+	Silent	SNP	A	A	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr17:53491548A>T	ENST00000262065.3	-	2	368	c.72T>A	c.(70-72)acT>acA	p.T24T		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	24					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GTTCATAGCAAGTTGGCTTGT	0.453																																						dbGAP											0													172.0	131.0	145.0					17																	53491548		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.72T>A	17.37:g.53491548A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6X9|D3DTY6|Q8TAN7	Silent	SNP	pfam_HlyIII-related,tigrfam_HylIII	p.T24	ENST00000262065.3	37	c.72	CCDS11586.1	17																																																																																			MMD	-	pfam_HlyIII-related	ENSG00000108960		0.453	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMD	HGNC	protein_coding	OTTHUMT00000439214.1	121	0.00	0	A			53491548	53491548	-1	no_errors	ENST00000262065	ensembl	human	known	69_37n	silent	52	21.21	14	SNP	0.968	T
MMP14	4323	genome.wustl.edu	37	14	23314529	23314529	+	Silent	SNP	A	A	G			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr14:23314529A>G	ENST00000311852.6	+	9	1632	c.1371A>G	c.(1369-1371)gaA>gaG	p.E457E	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	457					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	AAGTCTGGGAAGGGATCCCTG	0.562																																						dbGAP											0													74.0	58.0	63.0					14																	23314529		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1371A>G	14.37:g.23314529A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5L0|Q6GSF3|Q92678	Silent	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.E457	ENST00000311852.6	37	c.1371	CCDS9577.1	14																																																																																			MMP14	-	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat	ENSG00000157227		0.562	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP14	HGNC	protein_coding	OTTHUMT00000071660.3	48	0.00	0	A	NM_004995		23314529	23314529	+1	no_errors	ENST00000311852	ensembl	human	known	69_37n	silent	17	41.38	12	SNP	1.000	G
MSH6	2956	genome.wustl.edu	37	2	48027782	48027782	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr2:48027782delT	ENST00000234420.5	+	4	2812	c.2660delT	c.(2659-2661)cttfs	p.L887fs	MSH6_ENST00000540021.1_Frame_Shift_Del_p.L757fs|MSH6_ENST00000538136.1_Frame_Shift_Del_p.L585fs|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	887					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCTAAAATCCTTAAGCAGGTC	0.368			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											96.0	102.0	100.0					2																	48027782		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2660delT	2.37:g.48027782delT	ENSP00000234420:p.Leu887fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Frame_Shift_Del	DEL	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP	p.K888fs	ENST00000234420.5	37	c.2660	CCDS1836.1	2																																																																																			MSH6	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.368	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	45	0.00	0	T	NM_000179		48027782	48027782	+1	no_errors	ENST00000234420	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
MYH2	4620	genome.wustl.edu	37	17	10443330	10443330	+	Silent	SNP	C	C	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr17:10443330C>T	ENST00000245503.5	-	12	1446	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Silent_p.K354K|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.K354K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	354	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCCCCGTGAGCTTGTAAATGG	0.428																																						dbGAP											0													167.0	156.0	160.0					17																	10443330		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1062G>A	17.37:g.10443330C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K354	ENST00000245503.5	37	c.1062	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000125414		0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	121	0.00	0	C	NM_017534		10443330	10443330	-1	no_errors	ENST00000245503	ensembl	human	known	69_37n	silent	30	43.40	23	SNP	1.000	T
MYO7B	4648	genome.wustl.edu	37	2	128334255	128334255	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr2:128334255C>T	ENST00000409816.2	+	7	853	c.821C>T	c.(820-822)aCg>aTg	p.T274M	MYO7B_ENST00000389524.4_Missense_Mutation_p.T274M|MYO7B_ENST00000428314.1_Missense_Mutation_p.T274M			Q6PIF6	MYO7B_HUMAN	myosin VIIB	274	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCCTGGGCACGCCCTCCGAG	0.622																																						dbGAP											0													63.0	76.0	72.0					2																	128334255		2166	4263	6429	-	-	-	SO:0001583	missense	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.821C>T	2.37:g.128334255C>T	ENSP00000386461:p.Thr274Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.T274M	ENST00000409816.2	37	c.821	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	C	8.610	0.888838	0.17540	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.87650	-2.28;-2.28;-2.28	4.94	0.523	0.17060	Myosin head, motor domain (2);	0.548710	0.17650	N	0.166712	T	0.77525	0.4143	L	0.39467	1.215	0.09310	N	1	B	0.28350	0.208	B	0.24848	0.056	T	0.63332	-0.6661	10	0.36615	T	0.2	.	6.0014	0.19523	0.0:0.5805:0.1283:0.2911	.	274	Q6PIF6	MYO7B_HUMAN	M	274	ENSP00000374175:T274M;ENSP00000415090:T274M;ENSP00000386461:T274M	ENSP00000374175:T274M	T	+	2	0	MYO7B	128050725	0.007000	0.16637	0.002000	0.10522	0.830000	0.47004	-0.224000	0.09164	-0.118000	0.11851	-0.253000	0.11424	ACG	MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000169994		0.622	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	33	0.00	0	C	XM_291001		128334255	128334255	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.001	T
NAA25	80018	genome.wustl.edu	37	12	112509715	112509715	+	Silent	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr12:112509715G>A	ENST00000261745.4	-	10	1268	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	340						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGTACTCATCGTTACAACCTT	0.423																																						dbGAP											0													140.0	114.0	123.0					12																	112509715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1020C>T	12.37:g.112509715G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.N340	ENST00000261745.4	37	c.1020	CCDS9159.1	12																																																																																			NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat	ENSG00000111300		0.423	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	70	0.00	0	G	NM_024953		112509715	112509715	-1	no_errors	ENST00000261745	ensembl	human	known	69_37n	silent	23	14.81	4	SNP	0.108	A
NAE1	8883	genome.wustl.edu	37	16	66839867	66839867	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr16:66839867delG	ENST00000290810.3	-	18	1490	c.1393delC	c.(1393-1395)cttfs	p.L465fs	NAE1_ENST00000359087.4_Frame_Shift_Del_p.L468fs|NAE1_ENST00000394074.2_Frame_Shift_Del_p.L376fs|NAE1_ENST00000379463.2_Frame_Shift_Del_p.L459fs			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	465					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATTCCTGAAGGAAGCCAGTG	0.323																																						dbGAP											0													91.0	86.0	88.0					16																	66839867		2200	4300	6500	-	-	-	SO:0001589	frameshift_variant	0			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1393delC	16.37:g.66839867delG	ENSP00000290810:p.Leu465fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Frame_Shift_Del	DEL	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.L465fs	ENST00000290810.3	37	c.1393	CCDS10820.1	16																																																																																			NAE1	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000159593		0.323	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NAE1	HGNC	protein_coding	OTTHUMT00000268832.1	68	0.00	0	G	NM_003905		66839867	66839867	-1	no_errors	ENST00000290810	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
NDUFB5	4711	genome.wustl.edu	37	3	179334812	179334812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr3:179334812delG	ENST00000259037.3	+	4	436	c.322delG	c.(322-324)gaafs	p.E108fs	NDUFB5_ENST00000472629.1_Frame_Shift_Del_p.E96fs|snoU13_ENST00000459278.1_RNA|NDUFB5_ENST00000473500.1_3'UTR|NDUFB5_ENST00000493866.1_Frame_Shift_Del_p.E56fs	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	108					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)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTATGTCCCAGAACACTGGGA	0.323																																						dbGAP											0													86.0	84.0	85.0					3																	179334812		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.322delG	3.37:g.179334812delG	ENSP00000259037:p.Glu108fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q561V6	Frame_Shift_Del	DEL	pfam_NADH_UbQ_OxRdtase_B5_su	p.E108fs	ENST00000259037.3	37	c.322	CCDS3234.1	3																																																																																			NDUFB5	-	pfam_NADH_UbQ_OxRdtase_B5_su	ENSG00000136521		0.323	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB5	HGNC	protein_coding	OTTHUMT00000348937.2	52	0.00	0	G	NM_002492		179334812	179334812	+1	no_errors	ENST00000259037	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
NEMF	9147	genome.wustl.edu	37	14	50281529	50281529	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr14:50281529T>C	ENST00000298310.5	-	17	2073	c.1624A>G	c.(1624-1626)Ata>Gta	p.I542V	NEMF_ENST00000545773.1_Missense_Mutation_p.I500V|NEMF_ENST00000556925.1_Intron|NEMF_ENST00000546046.1_Missense_Mutation_p.I542V			O60524	NEMF_HUMAN	nuclear export mediator factor	542					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CGTCCACCTATAATTAGATAG	0.308																																						dbGAP											0													105.0	105.0	105.0					14																	50281529		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1624A>G	14.37:g.50281529T>C	ENSP00000298310:p.Ile542Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.I542V	ENST00000298310.5	37	c.1624	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093952	0.76870	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.54071	0.7;0.59;0.63;0.59	4.95	4.95	0.65309	Domain of unknown function DUF814 (1);	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	L	0.39692	1.235	0.80722	D	1	P;B;B;B	0.49447	0.924;0.065;0.065;0.044	P;B;B;B	0.54270	0.747;0.043;0.071;0.073	T	0.56486	-0.7971	10	0.40728	T	0.16	-21.0392	14.5642	0.68162	0.0:0.0:0.0:1.0	.	542;517;500;542	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	V	542;500;542;313;500	ENSP00000298310:I542V;ENSP00000438309:I500V;ENSP00000441016:I542V;ENSP00000452540:I500V	ENSP00000298310:I542V	I	-	1	0	NEMF	49351279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.062000	0.76706	1.973000	0.57446	0.455000	0.32223	ATA	NEMF	-	pfam_DUF814	ENSG00000165525		0.308	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	137	0.00	0	T	NM_004713		50281529	50281529	-1	no_errors	ENST00000298310	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	1.000	C
NFAT5	10725	genome.wustl.edu	37	16	69725862	69725862	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr16:69725862G>T	ENST00000354436.2	+	12	2398	c.2080G>T	c.(2080-2082)Gct>Tct	p.A694S	NFAT5_ENST00000349945.1_Missense_Mutation_p.A618S|NFAT5_ENST00000432919.1_Missense_Mutation_p.A712S|NFAT5_ENST00000393742.2_Missense_Mutation_p.A618S|NFAT5_ENST00000567239.1_Missense_Mutation_p.A711S|NFAT5_ENST00000566899.1_Missense_Mutation_p.A618S	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	694					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGCAGTTTCTGCTTCTAGTCA	0.473																																						dbGAP											0													83.0	80.0	81.0					16																	69725862		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2080G>T	16.37:g.69725862G>T	ENSP00000346420:p.Ala694Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.A712S	ENST00000354436.2	37	c.2134	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847842	0.32606	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.47177	0.86;0.85;0.86;0.85	6.08	6.08	0.98989	.	0.453294	0.26899	N	0.021924	T	0.29491	0.0735	L	0.28274	0.84	0.33569	D	0.598356	B;B;B	0.25772	0.134;0.028;0.134	B;B;B	0.15052	0.012;0.012;0.012	T	0.30966	-0.9960	10	0.07644	T	0.81	-3.5617	10.5332	0.44988	0.0679:0.0:0.7993:0.1329	.	711;694;712	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	S	712;711;618;694;618	ENSP00000396538:A712S;ENSP00000338806:A618S;ENSP00000346420:A694S;ENSP00000377343:A618S	ENSP00000338806:A618S	A	+	1	0	NFAT5	68283363	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.587000	0.36622	2.894000	0.99253	0.655000	0.94253	GCT	NFAT5	-	NULL	ENSG00000102908		0.473	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	74	0.00	0	G	NM_138714		69725862	69725862	+1	no_errors	ENST00000432919	ensembl	human	known	69_37n	missense	23	39.47	15	SNP	1.000	T
NFXL1	152518	genome.wustl.edu	37	4	47901430	47901430	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr4:47901430delA	ENST00000507489.1	-	6	959	c.783delT	c.(781-783)tttfs	p.F261fs	NFXL1_ENST00000329043.3_Frame_Shift_Del_p.F261fs|NFXL1_ENST00000381538.3_Frame_Shift_Del_p.F261fs	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	261						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AAGGAGGTTTAAATTCACGCT	0.383																																						dbGAP											0													101.0	94.0	96.0					4																	47901430		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.783delT	4.37:g.47901430delA	ENSP00000422037:p.Phe261fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1Q2K1|Q86VG1|Q8WVH1	Frame_Shift_Del	DEL	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.F261fs	ENST00000507489.1	37	c.783	CCDS3478.2	4																																																																																			NFXL1	-	NULL	ENSG00000170448		0.383	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1	50	0.00	0	A	NM_152995		47901430	47901430	-1	no_errors	ENST00000381538	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000	-
NOP14	8602	genome.wustl.edu	37	4	2945909	2945909	+	Silent	SNP	C	C	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr4:2945909C>T	ENST00000314262.6	-	13	1830	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000502735.1_Silent_p.V594V|NOP14_ENST00000416614.2_Silent_p.V594V|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000398071.4_Silent_p.V594V|NOP14_ENST00000507120.1_5'Flank	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	594					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						ACAGGCAGCACACGAACAGGC	0.498																																						dbGAP											0													85.0	77.0	80.0					4																	2945909		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1782G>A	4.37:g.2945909C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	pfam_Nop14	p.V594	ENST00000314262.6	37	c.1782	CCDS33945.1	4																																																																																			NOP14	-	pfam_Nop14	ENSG00000087269		0.498	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	60	0.00	0	C	NM_003703		2945909	2945909	-1	no_errors	ENST00000416614	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	1.000	T
NPC1	4864	genome.wustl.edu	37	18	21136530	21136530	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr18:21136530A>T	ENST00000269228.5	-	8	1557	c.1003T>A	c.(1003-1005)Ttg>Atg	p.L335M	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.L85M	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	335					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGCCGCCTCAAGCAGCCCTCA	0.577																																						dbGAP											0													36.0	36.0	36.0					18																	21136530		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1003T>A	18.37:g.21136530A>T	ENSP00000269228:p.Leu335Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type	p.L335M	ENST00000269228.5	37	c.1003	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259981	0.39995	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.90004	-2.6;-2.6	5.68	-9.01	0.00744	.	0.068319	0.64402	N	0.000017	D	0.89911	0.6852	M	0.66939	2.045	0.21499	N	0.999664	P;D	0.62365	0.947;0.991	P;P	0.60286	0.78;0.872	D	0.87691	0.2554	10	0.44086	T	0.13	-18.2591	16.3061	0.82849	0.2245:0.0:0.6799:0.0956	.	346;335	Q59GR1;O15118	.;NPC1_HUMAN	M	335;85;180	ENSP00000269228:L335M;ENSP00000408606:L85M	ENSP00000269228:L335M	L	-	1	2	NPC1	19390528	0.010000	0.17322	0.004000	0.12327	0.057000	0.15508	0.244000	0.18124	-2.158000	0.00788	-1.178000	0.01721	TTG	NPC1	-	tigrfam_NP_C_type	ENSG00000141458		0.577	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	38	0.00	0	A	NM_000271		21136530	21136530	-1	no_errors	ENST00000269228	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.002	T
NPTX2	4885	genome.wustl.edu	37	7	98257809	98257809	+	Silent	SNP	T	T	C			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr7:98257809T>C	ENST00000265634.3	+	5	1329	c.1164T>C	c.(1162-1164)atT>atC	p.I388I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	388	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CACAAGAAATTGTCAACATCG	0.582																																						dbGAP											0													102.0	81.0	88.0					7																	98257809		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1164T>C	7.37:g.98257809T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D267|Q86XV7|Q96G70	Silent	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin	p.I388	ENST00000265634.3	37	c.1164	CCDS5657.1	7																																																																																			NPTX2	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin	ENSG00000106236		0.582	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX2	HGNC	protein_coding	OTTHUMT00000334982.1	70	0.00	0	T	NM_002523		98257809	98257809	+1	no_errors	ENST00000265634	ensembl	human	known	69_37n	silent	53	18.46	12	SNP	0.333	C
OR1Q1	158131	genome.wustl.edu	37	9	125377241	125377241	+	Silent	SNP	C	C	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr9:125377241C>T	ENST00000297913.2	+	1	294	c.225C>T	c.(223-225)tcC>tcT	p.S75S	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	75					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GCTTCACCTCCACCACGGTCC	0.483																																						dbGAP											0													212.0	196.0	202.0					9																	125377241		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.225C>T	9.37:g.125377241C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFN4|Q8NGR7|Q96R82	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S75	ENST00000297913.2	37	c.225	CCDS35125.1	9																																																																																			OR1Q1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000165202		0.483	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1Q1	HGNC	protein_coding	OTTHUMT00000053946.1	102	0.00	0	C			125377241	125377241	+1	no_errors	ENST00000297913	ensembl	human	known	69_37n	silent	73	32.41	35	SNP	0.577	T
OR2D2	120776	genome.wustl.edu	37	11	6913561	6913561	+	Silent	SNP	T	T	G			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr11:6913561T>G	ENST00000299459.2	-	1	269	c.171A>C	c.(169-171)acA>acC	p.T57T		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	57					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AATACATGGGTGTGTGAAGTT	0.448																																						dbGAP											0													99.0	95.0	96.0					11																	6913561		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.171A>C	11.37:g.6913561T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt	p.T57	ENST00000299459.2	37	c.171	CCDS31416.1	11																																																																																			OR2D2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000166368		0.448	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D2	HGNC	protein_coding	OTTHUMT00000385986.1	82	0.00	0	T	NM_003700		6913561	6913561	-1	no_errors	ENST00000299459	ensembl	human	known	69_37n	silent	49	15.52	9	SNP	0.996	G
PASK	23178	genome.wustl.edu	37	2	242065791	242065791	+	Missense_Mutation	SNP	C	C	G	rs145387091		TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr2:242065791C>G	ENST00000405260.1	-	10	3237	c.2539G>C	c.(2539-2541)Gtt>Ctt	p.V847L	PASK_ENST00000544142.1_Missense_Mutation_p.V661L|PASK_ENST00000539818.1_Missense_Mutation_p.V631L|PASK_ENST00000358649.4_Missense_Mutation_p.V847L|PASK_ENST00000234040.4_Missense_Mutation_p.V847L|PASK_ENST00000403638.3_Missense_Mutation_p.V847L	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	847					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTGGAAGGAACGTGTCCTGGG	0.582																																						dbGAP											0													162.0	151.0	155.0					2																	242065791		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2539G>C	2.37:g.242065791C>G	ENSP00000384016:p.Val847Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_cat_dom,tigrfam_PAS	p.V847L	ENST00000405260.1	37	c.2539	CCDS2545.1	2	.	.	.	.	.	.	.	.	.	.	C	0.094	-1.162413	0.01673	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.19;-0.23;0.75	3.33	-6.66	0.01789	.	2.538340	0.01514	N	0.018074	T	0.44074	0.1276	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.001;0.001;0.003;0.001	T	0.41662	-0.9496	10	0.09843	T	0.71	.	2.8204	0.05469	0.1015:0.3909:0.2227:0.2849	.	812;661;847;847;847	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	L	847;661;847;847;631;847	ENSP00000234040:V847L;ENSP00000441374:V661L;ENSP00000384016:V847L;ENSP00000351475:V847L;ENSP00000443083:V631L;ENSP00000384438:V847L	ENSP00000234040:V847L	V	-	1	0	PASK	241714464	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.263000	0.01174	-2.278000	0.00677	-2.980000	0.00080	GTT	PASK	-	NULL	ENSG00000115687		0.582	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PASK	HGNC	protein_coding	OTTHUMT00000323753.1	60	0.00	0	C	NM_015148		242065791	242065791	-1	no_errors	ENST00000358649	ensembl	human	known	69_37n	missense	28	51.72	30	SNP	0.000	G
PCDHGA4	56111	genome.wustl.edu	37	5	140735269	140735269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr5:140735269delC	ENST00000571252.1	+	1	502	c.502delC	c.(502-504)cagfs	p.Q168fs	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	168	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACTCCCTGCAGGGTTACCA	0.488																																						dbGAP											0													53.0	55.0	55.0					5																	140735269		1981	4183	6164	-	-	-	SO:0001589	frameshift_variant	0			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.502delC	5.37:g.140735269delC	ENSP00000458570:p.Gln168fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5D3	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q168fs	ENST00000571252.1	37	c.502	CCDS58979.1	5																																																																																			PCDHGA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000262576		0.488	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	54	0.00	0	C	NM_018917		140735269	140735269	+1	no_errors	ENST00000571252	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
PCDHGA11	56105	genome.wustl.edu	37	5	140802474	140802474	+	Silent	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr5:140802474G>A	ENST00000398587.2	+	1	1713	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A	PCDHGA11_ENST00000518882.1_Silent_p.A560A|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	560	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAATGCGCCCGAGATCC	0.637																																						dbGAP											0													148.0	168.0	162.0					5																	140802474		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1680G>A	5.37:g.140802474G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A560	ENST00000398587.2	37	c.1680	CCDS47294.1	5																																																																																			PCDHGA11	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000253873		0.637	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	65	0.00	0	G	NM_018914		140802474	140802474	+1	no_errors	ENST00000398587	ensembl	human	known	69_37n	silent	11	54.17	13	SNP	0.000	A
PRAMEF18	391003	genome.wustl.edu	37	1	13474849	13474849	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr1:13474849G>A	ENST00000376126.2	-	3	1279	c.1280C>T	c.(1279-1281)tCg>tTg	p.S427L		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	427					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAGCTCCGAAATGACACG	0.567																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1280C>T	1.37:g.13474849G>A	ENSP00000365294:p.Ser427Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S427L	ENST00000376126.2	37	c.1280	CCDS41258.1	1	.	.	.	.	.	.	.	.	.	.	G	0	-2.637953	0.00114	.	.	ENSG00000204491	ENST00000376126	T	0.10382	2.88	1.39	-2.77	0.05877	.	2.037010	0.02097	N	0.053563	T	0.04452	0.0122	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.39603	-0.9606	10	0.27082	T	0.32	.	0.3219	0.00304	0.3502:0.1381:0.2478:0.2638	.	427	Q5VWM3	PRA18_HUMAN	L	427	ENSP00000365294:S427L	ENSP00000365294:S427L	S	-	2	0	PRAMEF18	13347436	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.205000	0.00274	-5.806000	0.00009	-2.979000	0.00080	TCG	PRAMEF18	-	NULL	ENSG00000204491		0.567	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PRAMEF18	HGNC	protein_coding	OTTHUMT00000008177.2	34	0.00	0	G	NM_001099850		13474849	13474849	-1	no_errors	ENST00000376126	ensembl	human	known	69_37n	missense	19	13.64	3	SNP	0.000	A
PRR14L	253143	genome.wustl.edu	37	22	32121576	32121576	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr22:32121576delG	ENST00000327423.6	-	3	684	c.495delC	c.(493-495)tccfs	p.S166fs	PRR14L_ENST00000434485.1_Frame_Shift_Del_p.S166fs|PRR14L_ENST00000397493.2_Frame_Shift_Del_p.S166fs|PRR14L_ENST00000461722.1_5'UTR	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	166										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GTTCTTTGCTGGACTGCATCA	0.358																																						dbGAP											0													104.0	91.0	95.0					22																	32121576		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 30"""	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.495delC	22.37:g.32121576delG	ENSP00000331845:p.Ser166fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Frame_Shift_Del	DEL	NULL	p.S166fs	ENST00000327423.6	37	c.495	CCDS13900.2	22																																																																																			PRR14L	-	NULL	ENSG00000183530		0.358	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	54	0.00	0	G	NM_173566		32121576	32121576	-1	no_errors	ENST00000397493	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.639	-
PRX	57716	genome.wustl.edu	37	19	40901699	40901699	+	Silent	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr19:40901699G>A	ENST00000324001.7	-	7	2830	c.2560C>T	c.(2560-2562)Ctg>Ttg	p.L854L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	854					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGAAGGCAGAGTGAGAGAG	0.632																																						dbGAP											0													69.0	73.0	71.0					19																	40901699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2560C>T	19.37:g.40901699G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXL9|Q9HCF2	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L854	ENST00000324001.7	37	c.2560	CCDS33028.1	19																																																																																			PRX	-	NULL	ENSG00000105227		0.632	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	23	0.00	0	G	NM_020956		40901699	40901699	-1	no_errors	ENST00000324001	ensembl	human	known	69_37n	silent	133	20.83	35	SNP	0.155	A
PRX	57716	genome.wustl.edu	37	19	40902909	40902909	+	Silent	SNP	G	G	C			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr19:40902909G>C	ENST00000324001.7	-	7	1620	c.1350C>G	c.(1348-1350)gtC>gtG	p.V450V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	450	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTGGAAGCTTGACCTCAGGAG	0.597																																						dbGAP											0													62.0	69.0	67.0					19																	40902909		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1350C>G	19.37:g.40902909G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXL9|Q9HCF2	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V450	ENST00000324001.7	37	c.1350	CCDS33028.1	19																																																																																			PRX	-	NULL	ENSG00000105227		0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	18	0.00	0	G	NM_020956		40902909	40902909	-1	no_errors	ENST00000324001	ensembl	human	known	69_37n	silent	30	26.83	11	SNP	0.483	C
PRX	57716	genome.wustl.edu	37	19	40903119	40903119	+	Silent	SNP	G	G	C			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr19:40903119G>C	ENST00000324001.7	-	7	1410	c.1140C>G	c.(1138-1140)gtC>gtG	p.V380V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	380					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCAGGGCTGACCTTGGCTA	0.607																																						dbGAP											0													63.0	71.0	68.0					19																	40903119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1140C>G	19.37:g.40903119G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXL9|Q9HCF2	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V380	ENST00000324001.7	37	c.1140	CCDS33028.1	19																																																																																			PRX	-	NULL	ENSG00000105227		0.607	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	10	0.00	0	G	NM_020956		40903119	40903119	-1	no_errors	ENST00000324001	ensembl	human	known	69_37n	silent	24	31.43	11	SNP	0.426	C
PSMA3	5684	genome.wustl.edu	37	14	58727696	58727696	+	Silent	SNP	C	C	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr14:58727696C>T	ENST00000216455.4	+	6	525	c.435C>T	c.(433-435)gaC>gaT	p.D145D	PSMA3_ENST00000412908.2_Silent_p.D138D|PSMA3_ENST00000557508.1_Silent_p.D70D	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	145					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)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GTGTGAATGACGGTGCGCAAC	0.313																																						dbGAP											0													153.0	145.0	148.0					14																	58727696		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.435C>T	14.37:g.58727696C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCK6|Q86U83|Q8N1D8|Q9BS70	Silent	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.D145	ENST00000216455.4	37	c.435	CCDS9731.1	14																																																																																			PSMA3	-	pfam_Proteasome_sua/b	ENSG00000100567		0.313	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1	80	0.00	0	C	NM_002788		58727696	58727696	+1	no_errors	ENST00000216455	ensembl	human	known	69_37n	silent	25	13.79	4	SNP	0.838	T
RFX2	5990	genome.wustl.edu	37	19	6007781	6007781	+	Silent	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr19:6007781G>A	ENST00000303657.5	-	11	1316	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	RFX2_ENST00000592546.1_Silent_p.F364F|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.F389F	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGATGTAGTGGAACTGGAGGT	0.587																																					Colon(38;171 817 19800 47433 48051)	dbGAP											0													70.0	57.0	61.0					19																	6007781		2192	4275	6467	-	-	-	SO:0001819	synonymous_variant	0				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1167C>T	19.37:g.6007781G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	NULL	p.P52S	ENST00000303657.5	37	c.154	CCDS12157.1	19																																																																																			RFX2	-	NULL	ENSG00000087903		0.587	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1	53	0.00	0	G	NM_000635		6007781	6007781	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000589340	ensembl	human	putative	69_37n	missense	34	20.93	9	SNP	0.989	A
RYR3	6263	genome.wustl.edu	37	15	34105734	34105734	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr15:34105734G>C	ENST00000389232.4	+	74	10526	c.10456G>C	c.(10456-10458)Gca>Cca	p.A3486P	RYR3_ENST00000415757.3_Missense_Mutation_p.A3481P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3486	Interaction with CALM. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGGAAACGGGCAGTGGTGGC	0.512																																						dbGAP											0													136.0	133.0	134.0					15																	34105734		1958	4138	6096	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10456G>C	15.37:g.34105734G>C	ENSP00000373884:p.Ala3486Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.A3486P	ENST00000389232.4	37	c.10456	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013622	0.93404	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.97752	-4.52	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.98566	0.9521	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.99823	1.1048	10	0.87932	D	0	.	18.1303	0.89599	0.0:0.0:1.0:0.0	.	3481;3486	Q15413-2;Q15413	.;RYR3_HUMAN	P	3486;3486;3481	ENSP00000373884:A3486P	ENSP00000354735:A3481P	A	+	1	0	RYR3	31893026	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.601000	0.98297	2.511000	0.84671	0.655000	0.94253	GCA	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	48	0.00	0	G			34105734	34105734	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	C
RYR3	6263	genome.wustl.edu	37	15	34140623	34140623	+	Splice_Site	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr15:34140623G>A	ENST00000389232.4	+	94	13698		c.e94+1		RYR3_ENST00000415757.3_Splice_Site|RYR3_ENST00000559917.1_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAACACACCGTGAGTGTCCC	0.463																																						dbGAP											0													62.0	64.0	64.0					15																	34140623		1954	4151	6105	-	-	-	SO:0001630	splice_region_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13628+1G>A	15.37:g.34140623G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15175|Q15412	Splice_Site	SNP	-	e94+1	ENST00000389232.4	37	c.13628+1	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535177	0.85812	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3556	0.94412	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31927915	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.441000	0.97557	2.882000	0.98803	0.655000	0.94253	.	RYR3	-	-	ENSG00000198838		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	30	0.00	0	G		Intron	34140623	34140623	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	splice_site	12	25.00	4	SNP	1.000	A
SBNO1	55206	genome.wustl.edu	37	12	123800123	123800123	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr12:123800123delG	ENST00000602398.1	-	22	3147	c.3020delC	c.(3019-3021)tctfs	p.S1007fs	SBNO1_ENST00000420886.2_Frame_Shift_Del_p.S1007fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.S1006fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.S1006fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1007					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGCAACAATAGATGCAAATCT	0.388																																						dbGAP											0													164.0	151.0	156.0					12																	123800123		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3020delC	12.37:g.123800123delG	ENSP00000473665:p.Ser1007fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Del	DEL	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.S1007fs	ENST00000602398.1	37	c.3020	CCDS53844.1	12																																																																																			SBNO1	-	NULL	ENSG00000139697		0.388	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	109	0.00	0	G	NM_018183		123800123	123800123	-1	no_errors	ENST00000420886	ensembl	human	known	69_37n	frame_shift_del	30	18.92	7	DEL	1.000	-
SIN3B	23309	genome.wustl.edu	37	19	16976441	16976442	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr19:16976441_16976442insC	ENST00000248054.5	+	11	1625_1626	c.1604_1605insC	c.(1603-1608)gtccccfs	p.VP535fs	SIN3B_ENST00000595541.1_Frame_Shift_Ins_p.VP125fs|SIN3B_ENST00000379803.1_Frame_Shift_Ins_p.VP567fs					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTCACCGCTGTCCCCGTTGTCC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1608dupC	19.37:g.16976445_16976445dupC	ENSP00000248054:p.Val535fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.V569fs	ENST00000248054.5	37	c.1700_1701		19																																																																																			SIN3B	-	NULL	ENSG00000127511		0.644	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	11	0.00	0	-	NM_015260		16976441	16976442	+1	no_errors	ENST00000379803	ensembl	human	known	69_37n	frame_shift_ins	15	28.57	6	INS	0.974:0.500	C
SLC16A4	9122	genome.wustl.edu	37	1	110919758	110919758	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr1:110919758A>C	ENST00000369779.4	-	7	1305	c.1056T>G	c.(1054-1056)atT>atG	p.I352M	SLC16A4_ENST00000472422.2_Missense_Mutation_p.I304M|SLC16A4_ENST00000541986.1_Missense_Mutation_p.I290M|SLC16A4_ENST00000369781.4_Missense_Mutation_p.I184M|SLC16A4_ENST00000497687.1_5'Flank|SLC16A4_ENST00000437429.2_Missense_Mutation_p.I242M	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	352					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	ATCCAGAAATAATCTGACTGA	0.398																																						dbGAP											0													189.0	179.0	182.0					1																	110919758		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1056T>G	1.37:g.110919758A>C	ENSP00000358794:p.Ile352Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I352M	ENST00000369779.4	37	c.1056	CCDS823.1	1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854875	0.71719	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781;ENST00000437429;ENST00000541986;ENST00000467986	T;T;T;T;T;D	0.81821	0.2;0.2;0.3;0.2;0.2;-1.54	5.98	-4.81	0.03180	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.555046	0.19766	N	0.106558	T	0.74627	0.3741	M	0.76574	2.34	0.21256	N	0.999743	P;B;P;D;D;P	0.63880	0.605;0.452;0.843;0.962;0.993;0.748	B;B;P;P;D;B	0.68483	0.387;0.232;0.583;0.873;0.958;0.446	T	0.65549	-0.6141	10	0.59425	D	0.04	.	1.7894	0.03048	0.2587:0.1809:0.0938:0.4666	.	242;290;304;352;184;352	E7EPY8;B4DJ67;G3V175;Q53FH9;Q8WU09;O15374	.;.;.;.;.;MOT5_HUMAN	M	352;304;184;242;290;119	ENSP00000358794:I352M;ENSP00000432495:I304M;ENSP00000358796:I184M;ENSP00000394790:I242M;ENSP00000446087:I290M;ENSP00000435768:I119M	ENSP00000358794:I352M	I	-	3	3	SLC16A4	110721281	0.042000	0.20092	0.612000	0.29024	0.990000	0.78478	-0.639000	0.05446	-0.508000	0.06540	0.528000	0.53228	ATT	SLC16A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000168679		0.398	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A4	HGNC	protein_coding	OTTHUMT00000031115.3	108	0.00	0	A	NM_004696		110919758	110919758	-1	no_errors	ENST00000369779	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.477	C
SLITRK1	114798	genome.wustl.edu	37	13	84453897	84453897	+	Silent	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr13:84453897G>A	ENST00000377084.2	-	1	2631	c.1746C>T	c.(1744-1746)taC>taT	p.Y582Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	582					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGATCCTAGCGTACAGCTGAG	0.542																																						dbGAP											0													92.0	79.0	83.0					13																	84453897		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1746C>T	13.37:g.84453897G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Y582	ENST00000377084.2	37	c.1746	CCDS9464.1	13																																																																																			SLITRK1	-	NULL	ENSG00000178235		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	80	0.00	0	G	NM_052910		84453897	84453897	-1	no_errors	ENST00000377084	ensembl	human	known	69_37n	silent	55	17.91	12	SNP	0.990	A
SMEK1	55671	genome.wustl.edu	37	14	91937280	91937280	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr14:91937280C>T	ENST00000554943.1	-	10	1676	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K	SMEK1_ENST00000428424.2_Missense_Mutation_p.E282K|SMEK1_ENST00000554684.1_Missense_Mutation_p.E508K|SMEK1_ENST00000337238.4_Missense_Mutation_p.E508K|SMEK1_ENST00000555462.1_Missense_Mutation_p.E282K			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	521					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTATGGTGCTCCACACAAAAT	0.353																																						dbGAP											0													105.0	107.0	107.0					14																	91937280		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1561G>A	14.37:g.91937280C>T	ENSP00000450883:p.Glu521Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E521K	ENST00000554943.1	37	c.1561		14	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802580	0.50315	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.57907	1.59;1.59;0.37;1.59;0.37;1.59	5.8	4.91	0.64330	Armadillo-like helical (1);Armadillo-type fold (1);	0.092585	0.64402	D	0.000001	T	0.56001	0.1956	M	0.81942	2.565	0.80722	D	1	B;B;B	0.34015	0.435;0.031;0.105	B;B;B	0.32465	0.146;0.061;0.11	T	0.56920	-0.7899	10	0.29301	T	0.29	-15.7337	16.2641	0.82565	0.1338:0.8662:0.0:0.0	.	282;521;508	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	K	508;508;282;521;282;508	ENSP00000450864:E508K;ENSP00000337125:E508K;ENSP00000392704:E282K;ENSP00000450883:E521K;ENSP00000450891:E282K;ENSP00000452596:E508K	ENSP00000337125:E508K	E	-	1	0	SMEK1	91007033	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	7.818000	0.86416	1.434000	0.47414	-0.188000	0.12872	GAG	SMEK1	-	superfamily_ARM-type_fold	ENSG00000100796		0.353	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	63	0.00	0	C	NM_032560		91937280	91937280	-1	no_errors	ENST00000554943	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	1.000	T
SYDE1	85360	genome.wustl.edu	37	19	15224594	15224594	+	Silent	SNP	C	C	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr19:15224594C>T	ENST00000342784.2	+	8	2059	c.2028C>T	c.(2026-2028)gaC>gaT	p.D676D	SYDE1_ENST00000600252.1_Silent_p.D333D|SYDE1_ENST00000600440.1_Silent_p.D609D	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	676					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CAGACTACGACCACGTGACGG	0.677																																						dbGAP											0													92.0	100.0	97.0					19																	15224594		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.2028C>T	19.37:g.15224594C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D676	ENST00000342784.2	37	c.2028	CCDS12324.1	19																																																																																			SYDE1	-	NULL	ENSG00000105137		0.677	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	43	0.00	0	C	NM_033025		15224594	15224594	+1	no_errors	ENST00000342784	ensembl	human	known	69_37n	silent	28	41.67	20	SNP	1.000	T
TCOF1	6949	genome.wustl.edu	37	5	149755799	149755799	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr5:149755799C>T	ENST00000504761.2	+	13	2048	c.2048C>T	c.(2047-2049)gCt>gTt	p.A683V	TCOF1_ENST00000439160.2_Missense_Mutation_p.A683V|TCOF1_ENST00000377797.3_Missense_Mutation_p.A683V|TCOF1_ENST00000323668.7_Missense_Mutation_p.A606V|TCOF1_ENST00000451292.1_Missense_Mutation_p.A683V|TCOF1_ENST00000513346.1_Missense_Mutation_p.A683V|TCOF1_ENST00000445265.2_Missense_Mutation_p.A606V|TCOF1_ENST00000394269.3_Missense_Mutation_p.A683V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	683					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCTGTGGCTGGGGGCACC	0.597																																						dbGAP											0													94.0	117.0	109.0					5																	149755799		2195	4287	6482	-	-	-	SO:0001583	missense	0				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2048C>T	5.37:g.149755799C>T	ENSP00000421655:p.Ala683Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.A683V	ENST00000504761.2	37	c.2048	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287237	0.40494	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.06	3.19	0.36642	Treacher Collins syndrome, treacle (1);	0.389447	0.18907	N	0.127876	T	0.49864	0.1582	L	0.46670	1.46	0.09310	N	1	B;B;B;B;P;B;P	0.39094	0.114;0.253;0.253;0.253;0.659;0.253;0.492	B;B;B;B;B;B;B	0.36567	0.044;0.105;0.105;0.105;0.228;0.105;0.171	T	0.37911	-0.9685	10	0.07482	T	0.82	-1.1806	5.8901	0.18909	0.1878:0.7091:0.0:0.1031	.	192;683;606;683;683;606;683	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	V	683;683;606;606;683;683;683;683;683	ENSP00000400939:A683V;ENSP00000367028:A683V;ENSP00000409944:A606V;ENSP00000325223:A606V;ENSP00000406888:A683V;ENSP00000377811:A683V;ENSP00000390717:A683V;ENSP00000421655:A683V;ENSP00000427484:A683V	ENSP00000325223:A606V	A	+	2	0	TCOF1	149735992	0.169000	0.23002	0.001000	0.08648	0.127000	0.20565	2.132000	0.42083	0.584000	0.29591	0.491000	0.48974	GCT	TCOF1	-	pfam_TCS_treacle	ENSG00000070814		0.597	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	66	0.00	0	C	NM_001008656		149755799	149755799	+1	no_errors	ENST00000451292	ensembl	human	known	69_37n	missense	17	37.04	10	SNP	0.002	T
TMEM106A	113277	genome.wustl.edu	37	17	41365219	41365219	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr17:41365219T>G	ENST00000331615.3	+	3	396	c.159T>G	c.(157-159)gaT>gaG	p.D53E	TMEM106A_ENST00000536052.1_Missense_Mutation_p.D53E|TMEM106A_ENST00000588659.1_Missense_Mutation_p.D53E|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Missense_Mutation_p.D5E	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	53						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GAACTGCTGATGCCAGCTTCG	0.547																																						dbGAP											0													143.0	129.0	134.0					17																	41365219		2203	4296	6499	-	-	-	SO:0001583	missense	0			AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.159T>G	17.37:g.41365219T>G	ENSP00000330774:p.Asp53Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2X2|B7Z698	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.D53E	ENST00000331615.3	37	c.159	CCDS11462.1	17	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268705	0.23136	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.21543	2.0;2.0;2.0	4.19	3.11	0.35812	.	0.612744	0.16845	N	0.197179	T	0.07863	0.0197	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.22103	-1.0226	10	0.49607	T	0.09	-6.6814	5.8906	0.18911	0.0:0.2043:0.0:0.7957	.	53;5;53	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	E	53;53;5	ENSP00000330774:D53E;ENSP00000439835:D53E;ENSP00000439844:D5E	ENSP00000330774:D53E	D	+	3	2	TMEM106A	38720745	0.000000	0.05858	0.002000	0.10522	0.636000	0.38137	-0.043000	0.12043	0.937000	0.37394	0.533000	0.62120	GAT	TMEM106A	-	pfam_DUF1356_TMEM106	ENSG00000184988		0.547	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106A	HGNC	protein_coding	OTTHUMT00000453470.2	42	0.00	0	T	NM_145041		41365219	41365219	+1	no_errors	ENST00000331615	ensembl	human	known	69_37n	missense	23	39.47	15	SNP	0.002	G
TMTC4	84899	genome.wustl.edu	37	13	101264696	101264696	+	Missense_Mutation	SNP	T	T	A	rs144940475	byFrequency	TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr13:101264696T>A	ENST00000376234.3	-	16	2152	c.1963A>T	c.(1963-1965)Atg>Ttg	p.M655L	TMTC4_ENST00000342624.5_Missense_Mutation_p.M674L|TMTC4_ENST00000328767.5_Missense_Mutation_p.M544L	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	655			M -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			integral component of membrane (GO:0016021)		p.M674V(2)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AACGAGAACATGAGAGAGTGA	0.443																																						dbGAP											2	Substitution - Missense(2)	breast(2)											156.0	146.0	149.0					13																	101264696		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1963A>T	13.37:g.101264696T>A	ENSP00000365408:p.Met655Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.M674L	ENST00000376234.3	37	c.2020	CCDS41904.1	13	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041345	0.35989	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.42131	0.98;0.98;0.98	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.037134	0.85682	D	0.000000	T	0.18718	0.0449	N	0.02286	-0.61	0.54753	D	0.99998	B;B;B	0.15719	0.014;0.002;0.003	B;B;B	0.15484	0.013;0.005;0.001	T	0.16571	-1.0398	10	0.06236	T	0.91	.	15.9313	0.79663	0.0:0.0:0.0:1.0	.	544;655;674	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	L	655;674;544	ENSP00000365408:M655L;ENSP00000343871:M674L;ENSP00000365409:M544L	ENSP00000365409:M544L	M	-	1	0	TMTC4	100062697	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.640000	0.83355	2.163000	0.67991	0.402000	0.26972	ATG	TMTC4	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000125247		0.443	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	HGNC	protein_coding	OTTHUMT00000045649.2	119	0.00	0	T	NM_032813		101264696	101264696	-1	no_errors	ENST00000342624	ensembl	human	known	69_37n	missense	39	30.36	17	SNP	1.000	A
TNXB	7148	genome.wustl.edu	37	6	32025869	32025869	+	Silent	SNP	C	C	T			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr6:32025869C>T	ENST00000375244.3	-	22	7992	c.7791G>A	c.(7789-7791)cgG>cgA	p.R2597R	TNXB_ENST00000375247.2_Silent_p.R2597R			P22105	TENX_HUMAN	tenascin XB	2657	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCCAGGCGCCGCCCCTCGT	0.642																																						dbGAP											0													42.0	50.0	47.0					6																	32025869		1317	2573	3890	-	-	-	SO:0001819	synonymous_variant	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7791G>A	6.37:g.32025869C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R2597	ENST00000375244.3	37	c.7791		6																																																																																			TNXB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	15	0.00	0	C	NM_019105		32025869	32025869	-1	no_errors	ENST00000375247	ensembl	human	known	69_37n	silent	11	26.67	4	SNP	0.325	T
TP53	7157	genome.wustl.edu	37	17	7578551	7578551	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr17:7578551A>G	ENST00000269305.4	-	5	568	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	TP53_ENST00000420246.2_Missense_Mutation_p.S127P|TP53_ENST00000413465.2_Missense_Mutation_p.S127P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S127P|TP53_ENST00000455263.2_Missense_Mutation_p.S127P|TP53_ENST00000445888.2_Missense_Mutation_p.S127P	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	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.0?(8)|p.S127T(6)|p.Y126_K132delYSPALNK(6)|p.S127P(6)|p.A129fs*20(3)|p.Y126_S127insQPHH(3)|p.Y126_N131delYSPALN(3)|p.V73fs*9(1)|p.S127fs*43(1)|p.?(1)|p.A36fs*20(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.S34P(1)|p.P13fs*18(1)|p.Y33_S34insQPHH(1)|p.S127fs*42(1)|p.Y126fs*18(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)	AGGGCAGGGGAGTACTGTAGG	0.552		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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	46	Substitution - Missense(13)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Insertion - In frame(4)|Unknown(1)	large_intestine(7)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|breast(5)|central_nervous_system(4)|pancreas(4)|prostate(4)|bone(4)|lung(3)|ovary(2)|stomach(1)|urinary_tract(1)|liver(1)											43.0	44.0	44.0					17																	7578551		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.379T>C	17.37:g.7578551A>G	ENSP00000269305:p.Ser127Pro	Somatic		WXS	Illumina GAIIx	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.S127P	ENST00000269305.4	37	c.379	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	26.5	4.741786	0.89573	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39	5.48	5.48	0.80851	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	0.99937	0.9972	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.977;1.0;1.0;1.0	D	0.95533	0.8605	10	0.87932	D	0	-30.2503	13.8301	0.63375	1.0:0.0:0.0:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127P;ENSP00000352610:S127P;ENSP00000269305:S127P;ENSP00000398846:S127P;ENSP00000391127:S127P;ENSP00000391478:S127P;ENSP00000423862:S34P;ENSP00000424104:S127P;ENSP00000426252:S127P	ENSP00000269305:S127P	S	-	1	0	TP53	7519276	1.000000	0.71417	0.962000	0.40283	0.934000	0.57294	7.419000	0.80179	2.206000	0.71126	0.533000	0.62120	TCC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	56	0.00	0	A	NM_000546		7578551	7578551	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	15	48.28	14	SNP	1.000	G
TSG101	7251	genome.wustl.edu	37	11	18537699	18537699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr11:18537699delC	ENST00000251968.3	-	3	555	c.140delG	c.(139-141)ggcfs	p.G47fs	TSG101_ENST00000543087.1_5'Flank|TSG101_ENST00000536719.1_Frame_Shift_Del_p.G47fs|TSG101_ENST00000357193.3_Intron	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	47	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CCTGGAACTGCCATCGTTAAA	0.338																																					GBM(99;1348 1396 8611 26475 50572)	dbGAP											0													81.0	78.0	79.0					11																	18537699		2199	4293	6492	-	-	-	SO:0001589	frameshift_variant	0			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.140delG	11.37:g.18537699delC	ENSP00000251968:p.Gly47fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUM5	Frame_Shift_Del	DEL	pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD	p.G47fs	ENST00000251968.3	37	c.140	CCDS7842.1	11																																																																																			TSG101	-	pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000074319		0.338	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSG101	HGNC	protein_coding	OTTHUMT00000395906.1	52	0.00	0	C	NM_006292		18537699	18537699	-1	no_errors	ENST00000251968	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
TTN	7273	genome.wustl.edu	37	2	179404659	179404659	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr2:179404659delT	ENST00000591111.1	-	302	93434	c.93210delA	c.(93208-93210)caafs	p.Q31070fs	TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.Q32711fs|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.Q23771fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.Q23646fs|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.Q23838fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.Q30143fs|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31070	Ig-like 139.				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)			AGATACCTTCTTGGTATCTTT	0.398																																						dbGAP											0													106.0	97.0	100.0					2																	179404659		1897	4124	6021	-	-	-	SO:0001589	frameshift_variant	0			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.93210delA	2.37:g.179404659delT	ENSP00000465570:p.Gln31070fs	Somatic		WXS	Illumina GAIIx	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	Frame_Shift_Del	DEL	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.E30144fs	ENST00000591111.1	37	c.90429		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	81	0.00	0	T	NM_133378		179404659	179404659	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
ZFAND4	93550	genome.wustl.edu	37	10	46143870	46143870	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr10:46143870delT	ENST00000344646.5	-	5	656	c.441delA	c.(439-441)gaafs	p.E147fs	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Frame_Shift_Del_p.E147fs|ZFAND4_ENST00000374366.3_Frame_Shift_Del_p.E73fs	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	147							zinc ion binding (GO:0008270)										ATTGATCTCCTTCTTGGTATA	0.413																																						dbGAP											0													157.0	149.0	151.0					10																	46143870		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.441delA	10.37:g.46143870delT	ENSP00000339484:p.Glu147fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8V4|B2RAX2|Q5VVY5	Frame_Shift_Del	DEL	pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,prints_Ubiquitin_subgr,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup	p.G148fs	ENST00000344646.5	37	c.441	CCDS7214.1	10																																																																																			ZFAND4	-	NULL	ENSG00000172671		0.413	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	76	0.00	0	T	NM_174890		46143870	46143870	-1	no_errors	ENST00000344646	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
ZNF208	7757	genome.wustl.edu	37	19	22155521	22155521	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1F6-01A-11D-A13L-09	TCGA-BH-A1F6-11B-94D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	34eb095d-3d44-4c59-9ef5-94592ba97900	9a86338f-4176-4931-ba32-457e92d4b0dc	g.chr19:22155521G>A	ENST00000397126.4	-	4	2463	c.2315C>T	c.(2314-2316)aCt>aTt	p.T772I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	772					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTCTCTACAGTATGAATTTT	0.363																																						dbGAP											0													31.0	35.0	33.0					19																	22155521		2004	4196	6200	-	-	-	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2315C>T	19.37:g.22155521G>A	ENSP00000380315:p.Thr772Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		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.T772I	ENST00000397126.4	37	c.2315	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	G	9.546	1.114573	0.20795	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.25749	1.78	2.28	1.14	0.20703	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45538	0.1347	.	.	.	0.26707	N	0.971051	D	0.76494	0.999	D	0.71414	0.973	T	0.29305	-1.0016	8	0.66056	D	0.02	.	9.3841	0.38331	0.0:0.2222:0.7778:0.0	.	672	O43345	ZN208_HUMAN	I	772;672	ENSP00000380315:T772I	ENSP00000380315:T772I	T	-	2	0	ZNF208	21947361	0.205000	0.23458	0.001000	0.08648	0.006000	0.05464	0.206000	0.17375	-0.022000	0.13986	0.280000	0.19369	ACT	ZNF208	-	pfscan_Znf_C2H2	ENSG00000160321		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	37	0.00	0	G	NM_007153		22155521	22155521	-1	no_errors	ENST00000397126	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.989	A
